O15146
EV
Gene name |
MUSK |
Protein name |
Muscle, skeletal receptor tyrosine-protein kinase |
Names |
MSP receptor, CDw136, Protein-tyrosine kinase 8, p185-Ron, Muscle-specific tyrosine-protein kinase receptor, MuSK, Muscle-specific kinase receptor |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4593 |
EC number |
2.7.10.1: Protein-tyrosine kinases |
Protein Class |
TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416) |
Descriptions
Muscle, skeletal receptor tyrosine-protein kinase (MuSK) RTK(receptor tyrosine kinase) that is expressed exclusively in muscle cells, and is essential for the formation of neuromuscular synapses because of its key role in clustering acetylcholine receptors. Mutation of the MUSK juxtamembrane Tyr residue results in the loss of ligand (agrin)-stimulated receptor autophosphorylation in muscle cells. However, the soluble cytoplasmic domain of MUSK bearing a Tyr553Phe substitution undergoes activation-segment autophosphorylation and kinase activation in vitro. MUSK is subject to strong activation-segment autoinhibition.
Autoinhibitory domains (AIDs)
Target domain |
575-856 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
Mutagenesis experiment, Structural analysis |
Accessory elements
742-767 (Activation loop from InterPro)
Target domain |
575-856 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Hubbard SR (2004) "Juxtamembrane autoinhibition in receptor tyrosine kinases", Nature reviews. Molecular cell biology, 5, 464-71
- Artim SC et al. (2012) "Assessing the range of kinase autoinhibition mechanisms in the insulin receptor family", The Biochemical journal, 448, 213-20
- Uchikawa E et al. (2019) "Activation mechanism of the insulin receptor revealed by cryo-EM structure of the fully liganded receptor-ligand complex", eLife, 8,
- Nielsen J et al. (2022) "Structural Investigations of Full-Length Insulin Receptor Dynamics and Signalling", Journal of molecular biology, 434, 167458
- Chen YS et al. (2021) "Insertion of a synthetic switch into insulin provides metabolite-dependent regulation of hormone-receptor activation", Proceedings of the National Academy of Sciences of the United States of America, 118,
- Craddock BP et al. (2007) "Autoinhibition of the insulin-like growth factor I receptor by the juxtamembrane region", FEBS letters, 581, 3235-40
- Huang X et al. (2009) "Structural insights into the inhibited states of the Mer receptor tyrosine kinase", Journal of structural biology, 165, 88-96
Autoinhibited structure
Activated structure
2 structures for O15146
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8S9P | EM | 380 A | C | 1-869 | PDB |
| AF-O15146-F1 | Predicted | AlphaFoldDB |
691 variants for O15146
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs863223335 RCV000170587 |
14 | T>missing | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_072785 rs775587809 CA5183928 |
38 | D>E | CMS9 [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs2076148894 RCV001166345 |
44 | V>A | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000653235 rs750101214 CA374664190 |
73 | T>I | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000008723 rs879255561 |
74 | R>missing | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5183971 rs776815006 RCV000341644 |
78 | R>Q | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5183972 RCV000372749 rs772926677 |
80 | N>S | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000560388 rs1198739112 CA374664355 |
87 | L>V | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs35142681 CA153743 RCV000117646 RCV000536711 RCV000278210 VAR_041749 |
100 | T>M | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000677721 RCV000202607 CA339624 rs551423795 RCV001853262 |
103 | N>S | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000393598 CA5183985 rs55786136 RCV000252149 RCV000537362 VAR_041750 |
107 | G>E | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000653231 COSM3952208 COSM3169647 CA5184005 rs375737188 |
125 | R>H | lung Fetal akinesia deformation sequence 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA276993 RCV000526130 rs375737188 RCV000192613 |
125 | R>L | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 4C [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs55980069 RCV000178245 RCV000312354 CA202782 RCV000425040 |
133 | I>T | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA915947132 RCV000805470 rs1587917824 |
158 | D>ER | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_041751 RCV000402519 CA153747 rs35176182 RCV000117648 |
159 | S>G | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA374665252 RCV000550759 rs1311636142 |
161 | L>F | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000363040 CA5184039 rs202045225 |
167 | I>T | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000539498 CA374666276 rs1554738557 |
179 | N>Y | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000700783 rs373304727 CA5184047 RCV000497317 |
186 | G>A | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5184053 rs768273510 RCV001062532 |
197 | G>R | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5184140 rs756953369 RCV000706204 |
212 | A>V | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000384112 rs55826142 CA5184148 RCV000653223 VAR_041752 |
222 | N>S | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001169337 CA374667836 rs1170201682 RCV001859096 |
234 | T>I | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000704644 rs1564253296 CA374667877 |
241 | P>S | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001169338 rs184488481 CA5184187 |
266 | I>T | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000264970 rs747154421 CA5184198 |
286 | N>S | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5184200 rs752641780 RCV001053759 |
291 | K>R | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA374668451 rs1554749322 RCV000653234 |
300 | T>N | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1319203200 RCV000689156 CA374466968 |
306 | W>G | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs201804790 RCV000180623 RCV000685702 CA248134 |
310 | Q>P | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5184262 rs375762569 RCV000555750 |
342 | A>V | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs387906803 VAR_072786 RCV000023093 CA249736 |
344 | P>R | Congenital myasthenic syndrome 9 CMS9 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001166403 rs1394359501 |
345 | E>D | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs764142979 CA374468961 RCV000653224 |
346 | E>D | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000695873 CA5184269 rs200064775 |
354 | T>M | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201014623 RCV001061020 |
367 | R>G | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000379468 CA5184273 RCV000712331 rs201014623 |
367 | R>W | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs768323977 RCV001861337 RCV000260967 CA5184274 |
368 | P>S | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs773285595 RCV000497855 RCV000531804 CA5184278 |
376 | N>K | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000653228 rs571312240 CA5184279 |
383 | S>I | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000253935 rs79843573 RCV000316740 RCV000544045 CA5184304 |
397 | Y>H | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001855125 CA5184307 RCV000353295 rs751972431 |
410 | W>C | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_021930 COSM3763531 RCV000375969 RCV000117642 rs2274419 CA153735 |
413 | M>I | Congenital myasthenic syndrome 9 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000653230 CA198353780 rs930182416 |
413 | M>T | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5184310 RCV000556439 rs558259191 |
415 | E>D | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000281406 rs538655454 CA5184311 |
417 | T>I | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs368044285 RCV001093097 RCV002069614 CA5184317 RCV001166930 |
426 | M>T | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5184320 rs372013406 RCV000350489 |
431 | V>M | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5184327 rs202239254 RCV000653226 |
454 | D>N | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs867786307 RCV001166931 CA198354142 |
458 | E>K | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000705956 COSM1459293 CA5184366 rs777107917 |
467 | T>M | Fetal akinesia deformation sequence 1 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000386234 CA5184381 rs191581729 |
506 | I>V | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002058765 rs769267043 CA5184382 RCV000296540 |
508 | V>M | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554755295 CA374475353 RCV000545260 |
515 | L>V | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA198357742 RCV000557353 rs369745938 |
558 | P>R | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_072787 RCV001579456 CA5184434 RCV000414863 rs751889864 RCV000170588 |
575 | I>T | Fetal akinesia deformation sequence 1 FADS1; reduces agrin-dependent AChR aggregation and tyrosine kinase activity in developing neuromuscular junction [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA5184437 RCV001218791 rs752798426 |
579 | R>* | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs953823198 CA198357806 RCV000689632 |
585 | A>V | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs766640370 VAR_066604 RCV000054417 CA5184484 |
605 | M>I | Congenital myasthenic syndrome 9 CMS9; affects interaction with DOK7 and impairs MUSK phosphorylation; altered AChR clustering [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000526715 CA374476378 rs758777089 |
605 | M>L | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000653232 CA5184487 rs181652070 |
616 | S>L | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000551332 rs1292312575 CA374476496 |
622 | D>V | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001498808 CA5184497 RCV000873673 rs34267283 VAR_041753 |
629 | L>F | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5184534 RCV000244965 VAR_041754 RCV000306389 RCV000513674 rs41279055 |
644 | V>A | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5184537 RCV000547706 rs201291910 |
648 | G>R | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000691383 rs199811263 CA5184539 |
651 | M>L | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000249911 RCV000528281 rs55963442 VAR_041755 RCV001168651 CA5184544 |
664 | N>S | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs754730206 RCV000541009 CA5184550 |
668 | R>C | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5184555 RCV000653225 rs779042240 |
672 | P>S | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000403675 rs547450130 RCV002061309 CA5184570 |
700 | A>T | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs577931355 CA5184572 RCV000653227 |
704 | C>Y | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2078077032 RCV001169414 |
724 | R>Q | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515450 CA249738 VAR_066605 RCV000054418 |
727 | A>V | Congenital myasthenic syndrome 9 CMS9; affects interaction with DOK7 and impairs MUSK phosphorylation; altered AChR clustering [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA5184581 rs376635652 RCV000653229 |
734 | G>S | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000653233 rs138418494 CA5184582 |
735 | E>K | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000498004 RCV000696818 rs1554757211 CA374479077 |
764 | I>T | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000413099 rs370079610 RCV000701606 CA5184606 |
767 | R>H | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001169418 rs2078081817 |
785 | V>M | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001784300 CA374479434 rs1554757237 RCV000677722 |
786 | W>* | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057518966 RCV001198407 CA16043436 RCV000415334 |
789 | G>S | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_023046 COSM455141 CA249734 rs199476083 RCV000701593 RCV000520620 RCV000008722 |
790 | V>M | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 CMS9; does not affect catalytic kinase activity; reduces protein expression and stability breast [ClinVar, UniProt, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA339639 RCV000202616 rs756877019 |
794 | E>D | Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000584854 rs188840021 CA5184619 RCV000304044 RCV000653236 |
798 | Y>C | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001858023 rs376837791 RCV000524008 CA198363795 |
803 | Y>C | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs2078084308 RCV001213366 |
808 | H>R | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs551520537 RCV000530016 CA5184629 |
815 | V>L | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001329439 rs2078085552 |
821 | L>P | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000354244 RCV000559727 rs578430 VAR_033837 RCV000117645 CA153741 |
829 | V>L | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001330094 rs371689428 CA5184643 RCV001871808 COSM1215974 |
836 | R>H | Fetal akinesia deformation sequence 1 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000531235 CA5184647 rs760757288 |
847 | P>T | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001751643 rs200450921 RCV001330095 CA5184650 RCV001863214 |
858 | R>C | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000543413 rs34115159 VAR_041759 COSM1624416 RCV000259526 CA5184651 |
858 | R>H | Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 liver [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1348994906 CA374667976 |
3 | E>G | No |
ClinGen gnomAD |
|
|
rs762340994 CA5183889 COSM752076 |
3 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA374667973 rs762340994 |
3 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA374667980 rs1230669359 |
4 | L>F | No |
ClinGen gnomAD |
|
|
COSM3432769 CA5183891 COSM3432770 rs765874906 |
5 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5183890 rs765874906 |
5 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA374667991 rs1587867708 |
6 | N>D | No |
ClinGen Ensembl |
|
|
rs747203404 CA5183892 |
6 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203437880 CA374667997 |
7 | I>L | No |
ClinGen TOPMed |
|
|
CA374668011 rs1257828480 |
9 | L>V | No |
ClinGen gnomAD |
|
|
rs1195416883 CA589778510 |
11 | H>L | No |
ClinGen gnomAD |
|
|
rs746254848 CA5183895 |
15 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA374668051 rs1425561584 |
15 | L>P | No |
ClinGen Ensembl |
|
|
CA5183896 rs765521756 COSM1330804 |
16 | V>L | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs758427621 CA5183899 |
20 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3847328 rs758427621 COSM3847329 CA5183898 |
20 | G>R | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5183900 rs747473837 |
21 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA374668189 rs1332419631 |
25 | P>R | No |
ClinGen TOPMed |
|
|
rs56054734 VAR_041748 CA198335358 |
27 | A>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs748900538 CA5183923 COSM1103968 |
29 | V>A | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1248339762 CA374669729 |
32 | T>I | No |
ClinGen gnomAD |
|
|
rs1254646159 CA374669735 |
33 | P>L | No |
ClinGen TOPMed |
|
|
rs1485024100 CA374669757 |
35 | E>K | No |
ClinGen TOPMed |
|
|
rs1187922371 CA374669786 |
36 | T>I | No |
ClinGen gnomAD |
|
|
rs745336025 CA5183926 |
37 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412657094 CA374669811 |
38 | D>Y | No |
ClinGen gnomAD |
|
|
CA198335371 rs901935734 |
40 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5183929 rs760628267 |
41 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5183930 rs763800237 |
45 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319209652 CA374669956 |
46 | T>S | No |
ClinGen gnomAD |
|
|
CA374670010 rs1435959892 |
49 | C>R | No |
ClinGen gnomAD |
|
|
RCV000518524 rs1554732832 CA374670074 |
52 | E>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs763142796 CA5183932 |
54 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374670229 rs1310418682 |
60 | S>F | No |
ClinGen TOPMed |
|
|
rs751680282 CA374670271 |
62 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5183934 rs751680282 |
62 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752882699 CA198335389 |
67 | L>H | No |
ClinGen TOPMed |
|
|
CA198335391 rs752882699 |
67 | L>P | No |
ClinGen TOPMed |
|
|
rs1322165872 CA374670372 |
68 | I>F | No |
ClinGen gnomAD |
|
|
rs1021042074 CA198337252 |
73 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5183965 rs750101214 |
73 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1021042074 CA374664186 |
73 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5183966 rs758118087 |
74 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370203787 CA374664194 |
74 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs779767402 CA5183967 |
75 | Y>S | No |
ClinGen ExAC |
|
|
rs1352178393 CA374664227 |
76 | S>N | No |
ClinGen gnomAD |
|
|
rs547322569 CA5183969 |
77 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5183970 rs747987063 |
78 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA374664251 rs1280539994 |
79 | E>K | No |
ClinGen gnomAD |
|
|
rs1254398960 CA374664312 |
84 | L>F | No |
ClinGen gnomAD |
|
|
CA374664357 rs1203462625 |
87 | L>Q | No |
ClinGen TOPMed |
|
|
rs1203462625 CA374664359 |
87 | L>R | No |
ClinGen TOPMed |
|
|
rs772270944 CA5183974 |
88 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374664368 rs1479019030 |
88 | S>R | No |
ClinGen gnomAD |
|
|
CA374664369 rs1479019030 |
88 | S>R | No |
ClinGen gnomAD |
|
|
rs926599889 CA198337270 |
89 | V>L | No |
ClinGen Ensembl |
|
|
rs1238167797 CA374664410 |
91 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA374664398 rs1389708336 |
91 | D>N | No |
ClinGen gnomAD |
|
|
rs1428062316 CA374664445 |
94 | D>N | No |
ClinGen gnomAD |
|
|
CA374664472 rs1391803394 |
96 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5183977 rs760781844 |
99 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765760347 CA5183980 |
101 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1340913424 CA374664551 |
102 | N>K | No |
ClinGen gnomAD |
|
|
CA5183981 rs201273265 |
104 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1276383503 CA374664569 |
104 | G>R | No |
ClinGen gnomAD |
|
|
CA374664568 rs1276383503 |
104 | G>S | No |
ClinGen gnomAD |
|
|
rs754539657 CA5183984 |
106 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1332750833 CA374664584 |
107 | G>* | No |
ClinGen Ensembl |
|
|
rs1447789545 CA374664642 |
116 | Q>K | No |
ClinGen gnomAD |
|
|
CA5183986 rs748123050 |
117 | V>M | No |
ClinGen ExAC |
|
|
rs575256000 CA5183987 |
119 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA198339757 rs760483928 |
121 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA198339755 rs760483928 |
121 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374664768 rs1473676752 |
124 | T>I | No |
ClinGen gnomAD |
|
|
CA5184004 rs371157090 |
125 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1455132737 CA374664793 |
127 | P>A | No |
ClinGen gnomAD |
|
|
rs1169774445 CA374664826 |
129 | N>S | No |
ClinGen TOPMed |
|
|
CA5184006 rs570136508 |
133 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5184007 rs747320067 |
134 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198339765 rs1005462716 |
135 | G>R | No |
ClinGen TOPMed |
|
|
rs1223381016 CA374664946 |
138 | A>T | No |
ClinGen TOPMed |
|
|
rs199586122 CA5184008 |
138 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198339768 rs867692195 |
140 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1288219695 CA374664968 |
140 | L>P | No |
ClinGen gnomAD |
|
|
CA374664963 rs867692195 |
140 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1327724661 CA374664981 |
141 | P>L | No |
ClinGen gnomAD |
|
|
CA198339772 rs535785941 |
143 | T>A | No |
ClinGen Ensembl |
|
|
CA374665017 rs1210600769 |
144 | T>A | No |
ClinGen gnomAD |
|
|
rs1261387267 CA374665023 |
144 | T>I | No |
ClinGen gnomAD |
|
|
rs764176983 CA198339775 |
145 | M>I | No |
ClinGen TOPMed |
|
|
rs1198911786 CA374665033 |
145 | M>T | No |
ClinGen gnomAD |
|
|
CA5184009 rs748144400 |
145 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1476034971 CA374665065 |
147 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs769953472 CA5184010 |
147 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA374665094 rs1411055273 |
149 | K>N | No |
ClinGen gnomAD |
|
|
CA374665100 rs1471566185 |
150 | P>S | No |
ClinGen gnomAD |
|
|
CA198339778 COSM3847331 rs867514674 COSM3847332 |
151 | S>* | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1363853082 CA374665137 |
153 | S>T | No |
ClinGen gnomAD |
|
|
CA198339781 rs866186589 |
154 | W>* | No |
ClinGen Ensembl |
|
|
CA374665169 rs1237708114 |
155 | I>V | No |
ClinGen Ensembl |
|
|
rs1048310820 CA198339783 |
156 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5184012 rs187347916 |
156 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3952209 COSM3952210 rs771428174 CA5184013 |
157 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs973667318 CA374665223 |
158 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5184014 rs35176182 |
159 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs534943745 CA374665241 |
160 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374665245 rs1308383168 |
160 | P>H | No |
ClinGen gnomAD |
|
|
rs534943745 CA5184015 |
160 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752295682 CA5184016 |
162 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs200750233 RCV000178247 CA245290 |
162 | R>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1414456540 CA374666016 |
163 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1171563328 CA374666005 |
163 | E>K | No |
ClinGen gnomAD |
|
|
rs1349731741 CA374666039 |
165 | S>F | No |
ClinGen gnomAD |
|
|
rs763656507 CA5184037 |
166 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA198340130 rs369558015 COSM1103972 |
166 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA198340134 rs767878101 |
167 | I>V | No |
ClinGen Ensembl |
|
|
CA5184040 rs765052433 |
168 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750334364 CA5184041 |
169 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA374666093 rs1464415453 |
170 | L>P | No |
ClinGen gnomAD |
|
|
rs1216039230 CA374666097 |
171 | E>* | No |
ClinGen gnomAD |
|
|
rs1216039230 CA374666095 |
171 | E>Q | No |
ClinGen gnomAD |
|
|
rs1564226661 CA374666120 |
173 | G>R | No |
ClinGen Ensembl |
|
|
CA374666136 rs1315885352 |
174 | S>N | No |
ClinGen TOPMed |
|
|
CA5184043 rs779839934 |
178 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA374666237 rs1320957563 |
178 | H>Y | No |
ClinGen gnomAD |
|
|
CA5184044 rs41279051 |
179 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1468498564 CA374666292 |
180 | V>I | No |
ClinGen gnomAD |
|
|
CA198340145 rs942289974 |
181 | Q>* | No |
ClinGen Ensembl |
|
|
rs1207568075 CA374666360 |
182 | K>N | No |
ClinGen gnomAD |
|
|
CA374666415 rs1476185184 |
184 | D>H | No |
ClinGen gnomAD |
|
|
rs749359907 CA5184046 |
185 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1002666517 CA198340151 |
188 | Y>* | No |
ClinGen TOPMed |
|
|
CA5184048 rs542900379 |
189 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374666553 rs1387603022 |
190 | C>R | No |
ClinGen TOPMed |
|
|
rs866747138 CA198340155 |
192 | A>T | No |
ClinGen Ensembl |
|
|
rs1564226803 CA374666637 |
193 | K>E | No |
ClinGen Ensembl |
|
|
CA5184050 rs772324297 |
193 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs746719179 CA5184052 |
195 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374666741 rs1564226827 |
196 | L>F | No |
ClinGen Ensembl |
|
|
rs768273510 CA374666758 |
197 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561525761 CA5184054 |
198 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371267116 CA5184056 |
200 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5184057 rs773036359 |
202 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA374666825 rs1186413517 |
202 | K>T | No |
ClinGen TOPMed |
|
|
CA5184061 rs756442664 |
206 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs751393601 CA5184060 |
206 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1216023199 CA374666871 |
207 | E>Q | No |
ClinGen gnomAD |
|
|
rs1273215689 CA374666888 |
208 | V>A | No |
ClinGen gnomAD |
|
|
rs764387006 CA5184062 |
208 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs754060972 CA5184063 |
209 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1171418329 CA374667717 |
214 | I>V | No |
ClinGen gnomAD |
|
|
CA5184142 rs369353843 |
216 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA198348731 rs188464904 |
216 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5184144 rs188464904 |
216 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369353843 CA5184141 |
216 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374667731 rs373491066 |
217 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374667729 rs1307911151 |
217 | A>P | No |
ClinGen gnomAD |
|
|
CA5184145 rs373491066 |
217 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374667735 rs1433126341 |
218 | P>S | No |
ClinGen TOPMed |
|
|
CA5184147 rs776278426 |
219 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1330643999 CA374667748 |
220 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs940823597 CA198348752 |
221 | H>Y | No |
ClinGen TOPMed |
|
|
rs774463260 COSM176708 CA5184150 |
223 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759633707 CA5184152 |
225 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184153 rs759633707 |
225 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184154 rs374657556 |
227 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1453312699 CA374667810 |
230 | T>A | No |
ClinGen gnomAD |
|
|
rs1191319937 CA374667811 |
230 | T>N | No |
ClinGen gnomAD |
|
|
rs1023868149 CA198348776 |
232 | H>Y | No |
ClinGen TOPMed |
|
|
CA198348788 rs376911820 RCV000659119 |
233 | C>R | No |
ClinGen ClinVar ESP TOPMed dbSNP |
|
|
CA5184156 rs371315297 |
235 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1283346544 CA374667855 |
237 | G>V | No |
ClinGen gnomAD |
|
|
CA374667861 rs1263670735 |
238 | I>T | No |
ClinGen TOPMed |
|
|
CA374667879 rs1352295628 |
241 | P>R | No |
ClinGen gnomAD |
|
|
rs1343010603 CA374667884 |
242 | T>N | No |
ClinGen TOPMed |
|
|
rs757023032 CA5184158 |
243 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA198348810 rs373192504 |
244 | T>N | No |
ClinGen ESP gnomAD |
|
|
rs1276809285 CA374667899 |
245 | W>R | No |
ClinGen TOPMed |
|
|
rs1372004765 CA374667930 |
249 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5184160 rs750058293 |
250 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA374668088 rs1587986086 |
252 | V>I | No |
ClinGen Ensembl |
|
|
CA374668094 rs1419144590 |
253 | S>P | No |
ClinGen gnomAD |
|
|
rs1216134298 CA374668126 |
256 | S>F | No |
ClinGen gnomAD |
|
|
rs1359558361 CA374668118 |
256 | S>T | No |
ClinGen gnomAD |
|
|
CA5184179 rs765981650 |
257 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751003770 CA5184180 |
258 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA5184182 rs370071178 |
259 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5184181 rs754990453 |
259 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374668149 rs754990453 |
259 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1559845 rs752588646 CA5184183 |
260 | S>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs886063353 CA374668169 |
260 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5184184 rs755906440 |
262 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA374668197 rs1187474550 |
263 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA374668199 rs1187474550 |
263 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777482709 CA5184185 COSM1459287 |
264 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs777482709 CA374668204 |
264 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184186 rs193019632 |
264 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374668212 rs1333336708 |
265 | V>L | No |
ClinGen gnomAD |
|
|
rs1418625115 CA374668244 |
268 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA374668268 rs1157131907 |
272 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA374668267 rs1157131907 |
272 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs981045233 CA198354555 |
275 | T>A | No |
ClinGen TOPMed |
|
|
rs768744763 CA5184190 |
275 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5184191 rs777285590 |
276 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs762353826 CA5184192 |
277 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184194 rs773708598 |
278 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA374668315 rs1222717103 |
280 | Y>C | No |
ClinGen gnomAD |
|
|
rs977371051 CA198354567 |
280 | Y>H | No |
ClinGen TOPMed |
|
|
rs1279428295 CA374668320 |
281 | T>A | No |
ClinGen TOPMed |
|
|
CA374668324 rs1281615771 |
281 | T>I | No |
ClinGen gnomAD |
|
|
CA374668331 rs762707937 |
282 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184196 rs765924399 |
283 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA374668340 rs1315530629 |
284 | A>P | No |
ClinGen TOPMed |
|
|
CA374668344 rs1484918797 |
284 | A>V | No |
ClinGen gnomAD |
|
|
CA5184197 rs368709956 |
285 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374668380 rs1410344499 |
290 | E>* | No |
ClinGen gnomAD |
|
|
rs1416891382 CA374668399 |
292 | F>C | No |
ClinGen TOPMed |
|
|
rs1374577863 CA374668432 |
297 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5184202 rs777607209 |
299 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA374668450 rs1554749322 |
300 | T>I | No |
ClinGen Ensembl |
|
|
CA374668470 rs1192511364 |
303 | I>V | No |
ClinGen TOPMed |
|
|
rs1319203200 CA374466967 |
306 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1391191595 CA374468620 |
311 | K>E | No |
ClinGen TOPMed |
|
|
CA374468625 rs1187628269 |
311 | K>N | No |
ClinGen gnomAD |
|
|
rs376831940 CA198350762 |
312 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs1362784498 CA374468630 |
312 | D>V | No |
ClinGen gnomAD |
|
|
CA5184247 rs756266862 |
313 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1588014512 CA374468646 |
314 | K>T | No |
ClinGen Ensembl |
|
|
CA5184249 rs749815609 |
315 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs757775674 CA5184250 |
316 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1311522447 CA374468668 |
317 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA374468664 rs1453555713 |
317 | C>Y | No |
ClinGen TOPMed |
|
|
rs369023786 CA5184251 |
318 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374468681 rs1306377389 |
319 | Q>H | No |
ClinGen gnomAD |
|
|
CA374468690 rs1241422627 |
321 | R>G | No |
ClinGen gnomAD |
|
|
rs1449532775 CA374468697 |
322 | G>R | No |
ClinGen TOPMed |
|
|
CA5184254 rs775131984 |
324 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs776201930 CA5184257 |
327 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184258 rs761698956 |
330 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA374468780 rs1200923498 |
333 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1416816371 CA374468787 |
333 | A>V | No |
ClinGen gnomAD |
|
|
CA5184260 rs373175897 |
338 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769749384 CA5184259 |
338 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367412921 CA374468881 |
341 | Y>C | No |
ClinGen TOPMed |
|
|
CA198350807 rs867394741 |
341 | Y>H | No |
ClinGen Ensembl |
|
|
rs1466975443 CA374468907 COSM3664006 |
343 | D>Y | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs764142979 CA5184266 |
346 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198350832 rs373788285 |
346 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5184267 rs753919630 |
352 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1365571546 CA374469026 |
352 | V>I | No |
ClinGen TOPMed |
|
|
rs201791900 CA5184268 |
353 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758777519 CA5184271 |
355 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780387236 CA374469078 |
356 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs780387236 CA5184272 |
356 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA374469091 rs1199997870 |
357 | N>D | No |
ClinGen gnomAD |
|
|
CA198350859 rs199891500 |
357 | N>K | No |
ClinGen Ensembl |
|
|
rs1038479586 CA198350865 |
367 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs780616845 CA5184275 |
369 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs975514015 CA198350886 |
372 | A>D | No |
ClinGen TOPMed |
|
|
rs957660061 CA198350885 |
372 | A>T | No |
ClinGen TOPMed |
|
|
CA5184276 rs747717789 |
373 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249712263 CA374469533 |
380 | Q>K | No |
ClinGen TOPMed |
|
|
rs1226695352 CA374469565 |
381 | E>* | No |
ClinGen TOPMed |
|
|
CA374469580 rs1393891388 |
382 | C>R | No |
ClinGen gnomAD |
|
|
rs1438959250 CA374469587 |
382 | C>Y | No |
ClinGen gnomAD |
|
|
CA5184280 rs770907001 |
387 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374469663 rs770907001 |
387 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198350909 COSM276188 rs921440607 |
388 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA374469747 rs1403543378 |
389 | T>A | No |
ClinGen TOPMed |
|
|
CA5184281 rs774282945 |
392 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184282 rs760844052 |
394 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305681466 CA374469835 |
394 | C>G | No |
ClinGen gnomAD |
|
|
rs974076801 CA198353738 |
397 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA374472717 rs1304458978 |
401 | V>I | No |
ClinGen gnomAD |
|
|
CA374472720 rs1304458978 |
401 | V>L | No |
ClinGen gnomAD |
|
|
rs1217825247 CA374472762 |
403 | E>V | No |
ClinGen gnomAD |
|
|
CA374472814 rs1484974390 |
405 | F>L | No |
ClinGen gnomAD |
|
|
rs368395413 CA374472832 |
406 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374472828 rs1212909353 |
406 | C>S | No |
ClinGen gnomAD |
|
|
COSM1103985 rs867005027 CA198353744 |
407 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1469711288 CA374472848 |
407 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5184306 rs372316254 |
408 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA198353758 rs190208059 |
408 | K>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA198353770 rs751972431 |
410 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184308 rs755376495 |
412 | V>G | No |
ClinGen ExAC |
|
|
rs1159007561 CA374472980 |
413 | M>V | No |
ClinGen gnomAD |
|
|
rs891246258 CA374473012 |
414 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs752450976 CA5184309 |
414 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA374473011 rs1588025499 |
414 | E>V | No |
ClinGen Ensembl |
|
|
rs1554754129 CA374473022 |
415 | E>K | No |
ClinGen Ensembl |
|
|
rs538655454 CA374473056 |
417 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374473114 rs550568354 |
419 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5184313 rs373421409 |
420 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1452268407 CA374473157 |
422 | Y>C | No |
ClinGen TOPMed |
|
|
rs1303090255 CA374473151 |
422 | Y>H | No |
ClinGen gnomAD |
|
|
CA198353803 rs924372542 |
423 | R>T | No |
ClinGen TOPMed |
|
|
COSM1258331 rs745722798 CA5184315 |
425 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5184318 rs751266636 |
427 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934290147 CA198353830 |
430 | S>P | No |
ClinGen TOPMed |
|
|
rs372013406 CA5184321 |
431 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA198353849 rs374954692 |
432 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA198353851 rs555968361 |
438 | P>L | No |
ClinGen 1000Genomes |
|
|
CA374473293 rs932883095 |
438 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs932883095 CA198353850 |
438 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1050033518 CA198353854 |
439 | S>T | No |
ClinGen TOPMed |
|
|
CA374473336 rs1476938314 COSM3847338 |
443 | D>A | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1174184253 CA374473341 |
443 | D>E | No |
ClinGen gnomAD |
|
|
rs1476938314 CA374473337 |
443 | D>G | No |
ClinGen gnomAD |
|
|
CA5184323 rs774934168 |
444 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1000792918 CA198353869 |
445 | T>M | No |
ClinGen Ensembl |
|
|
CA374473366 rs1167912262 |
447 | C>R | No |
ClinGen gnomAD |
|
|
rs767990859 CA374473374 |
448 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA5184325 rs767990859 |
448 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA374473422 rs1167321143 |
453 | L>R | No |
ClinGen TOPMed |
|
|
rs202239254 CA5184326 |
454 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5184345 rs373238837 |
455 | Y>* | No |
ClinGen ESP ExAC |
|
|
rs369240171 CA5184344 |
455 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1252463716 CA374473471 |
458 | E>D | No |
ClinGen TOPMed |
|
|
rs753551398 CA5184347 |
461 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1483512600 CA374474566 |
463 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs982569286 CA198357357 |
465 | P>L | No |
ClinGen gnomAD |
|
|
CA374474596 rs982569286 |
465 | P>Q | No |
ClinGen gnomAD |
|
|
rs769212099 CA5184365 |
466 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1253803059 CA374474709 |
472 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1443675686 CA374474736 |
473 | V>E | No |
ClinGen gnomAD |
|
|
rs1383155825 CA374474757 |
474 | D>E | No |
ClinGen TOPMed |
|
|
rs1009648266 CA198357371 |
474 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5184370 COSM3952214 rs762375601 |
476 | P>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA374474828 rs1381363810 |
479 | P>S | No |
ClinGen gnomAD |
|
|
CA374474858 rs1434620759 |
481 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA374474876 rs1320924092 |
482 | S>C | No |
ClinGen TOPMed |
|
|
CA5184372 rs751557512 |
482 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402697571 CA374474880 |
483 | S>P | No |
ClinGen Ensembl |
|
|
rs1374931787 CA374474936 |
487 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5184374 rs767339099 |
487 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA374474947 rs1345123857 |
488 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1161905783 CA374474964 |
489 | S>P | No |
ClinGen TOPMed |
|
|
rs147724994 CA5184375 |
490 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA198357392 rs771031640 |
490 | P>S | No |
ClinGen Ensembl |
|
|
CA5184377 rs779031081 |
493 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs368165176 CA5184376 |
493 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374475050 rs1483916013 |
495 | T>I | No |
ClinGen gnomAD |
|
|
rs746031604 CA5184378 |
495 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs534659328 CA198357407 |
500 | I>N | No |
ClinGen TOPMed |
|
|
CA5184379 rs371738469 |
500 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200523959 CA374475161 |
501 | M>I | No |
ClinGen gnomAD |
|
|
rs1564290813 CA374475153 COSM1635971 |
501 | M>T | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
RCV000289862 rs886043719 |
502 | S>T | No |
ClinVar dbSNP |
|
|
rs201639582 CA5184384 |
510 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201639582 CA5184383 |
510 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA198357437 rs201499788 |
512 | I>V | No |
ClinGen 1000Genomes |
|
|
CA5184385 rs770129857 |
513 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1379894331 CA374475345 |
514 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1467052958 CA374475351 |
514 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374475344 rs1379894331 |
514 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5184388 rs765869653 |
516 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
COSM124579 rs773818596 CA5184390 |
519 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA374475581 rs1324678963 |
528 | K>E | No |
ClinGen TOPMed |
|
|
CA5184391 rs776545636 |
528 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767464034 CA5184392 |
529 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA374475614 rs1267578054 |
530 | E>D | No |
ClinGen gnomAD |
|
|
rs762016996 CA198357657 |
532 | A>E | No |
ClinGen Ensembl |
|
|
rs759077822 CA5184408 |
533 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759077822 CA374475630 |
533 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184410 rs368698989 |
535 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374475644 rs1292544213 |
536 | L>H | No |
ClinGen TOPMed |
|
|
CA5184412 rs372082767 |
536 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374475651 rs753647097 |
537 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374475650 rs753647097 |
537 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184413 rs753647097 |
537 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs928134595 CA198357682 |
538 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA374475664 rs1425068553 |
540 | P>S | No |
ClinGen gnomAD |
|
|
rs1314836666 CA374475674 |
542 | E>K | No |
ClinGen TOPMed |
|
|
rs761470115 CA5184416 |
545 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5184415 rs761470115 |
545 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs755122787 CA5184418 |
547 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs375184468 CA5184419 |
548 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA198357720 rs865907539 |
549 | H>Y | No |
ClinGen Ensembl |
|
|
rs1226207815 CA374475726 |
550 | P>S | No |
ClinGen gnomAD |
|
|
CA374475749 rs1430558547 |
553 | M>I | No |
ClinGen TOPMed |
|
|
CA374475747 rs1198992734 |
553 | M>T | No |
ClinGen gnomAD |
|
|
rs753213086 CA5184420 |
553 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184421 rs756610821 |
557 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184422 rs369745938 |
558 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA198357736 rs867596271 COSM1472182 |
558 | P>S | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1163885675 CA374475791 |
559 | L>P | No |
ClinGen TOPMed |
|
|
rs778537975 CA5184425 |
563 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1184744541 CA374475820 |
564 | K>R | No |
ClinGen TOPMed |
|
|
CA5184429 rs200787064 |
565 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5184428 rs200787064 |
565 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5184431 rs776396098 |
567 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA198357781 rs369090684 |
569 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374475863 rs1378295933 |
571 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA374475862 rs1378295933 |
571 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA374475868 rs1205413597 |
572 | R>G | No |
ClinGen TOPMed |
|
|
rs1358028791 CA374475888 |
574 | N>S | No |
ClinGen gnomAD |
|
|
CA5184435 rs751889864 |
575 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1445178162 CA374475892 |
575 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5184436 rs767748258 |
576 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564291603 CA374475935 |
581 | I>T | No |
ClinGen Ensembl |
|
|
rs202126269 CA5184439 |
582 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184440 rs754231881 |
583 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374475948 rs1278541714 |
583 | E>D | No |
ClinGen gnomAD |
|
|
CA374475959 rs953823198 |
585 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs779231840 CA5184442 |
585 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771679900 CA5184445 |
586 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA5184444 rs771679900 |
586 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA5184446 rs746563484 |
588 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1010626190 CA198357822 |
590 | F>S | No |
ClinGen Ensembl |
|
|
rs1588038742 CA374476000 |
592 | A>S | No |
ClinGen Ensembl |
|
|
CA198358895 rs963155772 |
594 | A>T | No |
ClinGen gnomAD |
|
|
rs993238186 CA198358896 |
594 | A>V | No |
ClinGen gnomAD |
|
|
CA5184472 rs202004848 |
595 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374476340 rs1188897958 |
598 | L>P | No |
ClinGen gnomAD |
|
|
CA5184473 rs749123073 |
599 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs760793449 CA5184476 |
600 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5184475 rs147562871 |
600 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147562871 CA5184474 |
600 | Y>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1449686763 CA374476352 |
601 | E>K | No |
ClinGen gnomAD |
|
|
rs1449686763 CA374476353 |
601 | E>Q | No |
ClinGen gnomAD |
|
|
rs776660528 CA5184479 |
602 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs565780053 CA5184478 |
602 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765765906 CA5184481 |
603 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs758777089 CA5184483 |
605 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304218373 CA374476415 |
610 | M>R | No |
ClinGen gnomAD |
|
|
CA5184485 rs751296377 |
611 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1564293633 CA374476420 |
611 | L>V | No |
ClinGen Ensembl |
|
|
rs1398742211 CA374476425 |
612 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs754559098 CA5184486 |
614 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs868674554 CA198358957 |
614 | E>K | No |
ClinGen Ensembl |
|
|
CA5184489 rs755642035 |
619 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs777853943 CA374476490 |
621 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353924755 CA374476487 |
621 | A>T | No |
ClinGen gnomAD |
|
|
rs777853943 CA5184490 |
621 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184494 rs747293813 |
626 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs569529834 CA5184495 |
627 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1447104944 CA374476531 |
627 | A>P | No |
ClinGen gnomAD |
|
|
rs776795823 CA198359006 |
628 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184496 rs776795823 |
628 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374476536 rs1473606990 |
628 | A>V | No |
ClinGen gnomAD |
|
|
rs1380130572 CA374476551 |
630 | M>I | No |
ClinGen gnomAD |
|
|
CA5184498 rs769807910 |
632 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1161007370 CA374476570 |
633 | F>S | No |
ClinGen gnomAD |
|
|
CA374476626 rs1385682278 |
637 | N>K | No |
ClinGen gnomAD |
|
|
rs370413759 CA5184499 |
638 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374476633 rs1438744692 |
638 | I>T | No |
ClinGen gnomAD |
|
|
CA5184500 rs370413759 |
638 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766810675 CA5184501 |
639 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs751851038 CA5184502 |
642 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs749361502 CA5184535 |
646 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA374477613 rs1315654193 |
648 | G>E | No |
ClinGen gnomAD |
|
|
rs1252199058 CA374477615 |
649 | K>E | No |
ClinGen gnomAD |
|
|
CA374477623 rs746369227 |
650 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5184538 rs746369227 |
650 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5184540 rs775965812 |
651 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1002060335 CA198363264 |
651 | M>T | No |
ClinGen Ensembl |
|
|
CA198363258 rs199811263 |
651 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA198363283 rs373498353 |
656 | E>Q | No |
ClinGen ESP |
|
|
CA5184541 rs760452360 |
657 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198363305 rs1055882094 |
658 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763859844 CA5184542 |
659 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA198363309 rs546085799 |
660 | Y>C | No |
ClinGen Ensembl |
|
|
rs55963442 CA5184546 |
664 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs55963442 CA5184545 |
664 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs191497026 CA5184547 |
665 | E>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs1364426411 CA374477732 |
666 | F>L | No |
ClinGen TOPMed |
|
|
CA5184549 rs368783049 |
667 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5184552 rs777865246 |
668 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777865246 CA5184551 |
668 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198363320 rs990106131 |
669 | S>I | No |
ClinGen TOPMed |
|
|
CA198363331 rs62571411 |
670 | M>I | No |
ClinGen Ensembl |
|
|
CA5184554 rs757335240 |
671 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5184556 rs555724845 |
673 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs573900610 CA5184558 |
675 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565084287 CA5184559 |
677 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374669213 CA5184560 |
681 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1490647040 CA374477831 |
681 | S>N | No |
ClinGen gnomAD |
|
|
CA374477891 rs1588053756 |
685 | M>I | No |
ClinGen Ensembl |
|
|
CA374477883 rs1184419043 |
685 | M>V | No |
ClinGen TOPMed |
|
|
CA198363370 rs1025623699 |
688 | Q>* | No |
ClinGen Ensembl |
|
|
CA374477935 rs1464125081 |
689 | V>F | No |
ClinGen TOPMed |
|
|
CA5184561 rs776206952 |
693 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA374477985 rs1216581384 |
693 | G>R | No |
ClinGen gnomAD |
|
|
rs377712660 CA198363393 |
694 | P>R | No |
ClinGen ESP |
|
|
CA198363391 rs148946394 |
694 | P>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA198363438 rs56126328 VAR_041756 |
696 | P>L | No |
ClinGen UniProt ExAC dbSNP |
|
|
CA5184567 rs56126328 |
696 | P>R | No |
ClinGen ExAC |
|
|
rs762405737 CA5184566 |
696 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs754779029 CA5184569 |
697 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA198363449 rs1018816209 |
699 | C>F | No |
ClinGen Ensembl |
|
|
CA374478123 rs1564300498 |
705 | I>V | No |
ClinGen Ensembl |
|
|
rs1342857250 CA374478146 |
706 | A>V | No |
ClinGen gnomAD |
|
|
CA5184573 rs778908470 |
707 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778908470 CA5184574 |
707 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394477683 CA374478166 |
708 | Q>R | No |
ClinGen TOPMed |
|
|
rs758510906 CA5184575 |
711 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA374478235 rs1463927823 |
714 | A>G | No |
ClinGen TOPMed |
|
|
rs1377981904 CA374478227 |
714 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1450059228 CA374478250 |
715 | Y>C | No |
ClinGen gnomAD |
|
|
rs965897235 CA198363503 |
716 | L>P | No |
ClinGen Ensembl |
|
|
rs373688070 CA5184577 |
718 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780708655 CA5184576 |
718 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5184578 rs769211968 |
719 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198363529 rs545173798 |
719 | R>H | No |
ClinGen 1000Genomes TOPMed |
|
|
CA374478311 rs769211968 |
719 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374478340 rs1319315530 |
720 | K>E | No |
ClinGen gnomAD |
|
|
CA374478351 rs1195333037 |
720 | K>R | No |
ClinGen TOPMed |
|
|
rs1238400476 CA374478388 |
722 | V>A | No |
ClinGen gnomAD |
|
|
rs1255531873 CA374478415 |
724 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA374478565 rs1473937582 |
733 | V>A | No |
ClinGen gnomAD |
|
|
CA198363553 rs1048752511 |
734 | G>V | No |
ClinGen TOPMed |
|
|
CA5184583 rs770373727 |
736 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA198363578 rs912875736 |
737 | M>T | No |
ClinGen Ensembl |
|
|
rs1348939791 CA374478610 |
737 | M>V | No |
ClinGen TOPMed |
|
|
rs774327095 CA5184584 |
738 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs767252670 CA5184586 |
739 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5184587 rs752514384 |
741 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184591 rs750605786 |
743 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750605786 CA5184590 |
743 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs946331182 CA198363613 |
744 | F>C | No |
ClinGen Ensembl |
|
|
rs907475279 CA198363617 |
747 | S>C | No |
ClinGen TOPMed |
|
|
CA5184592 rs780279119 |
748 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1224878179 CA374478798 |
749 | N>D | No |
ClinGen gnomAD |
|
|
rs755489021 CA5184594 |
749 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs375212477 CA198363635 |
750 | I>F | No |
ClinGen Ensembl |
|
|
CA5184595 rs781506865 |
750 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374478848 rs1205731716 |
752 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1032294980 CA374478889 |
754 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs769989475 CA5184597 |
757 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs748922669 CA5184599 |
762 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA374479027 rs748922669 |
762 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs199507468 CA5184601 |
763 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5184602 rs759515313 |
763 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs954064794 CA198363672 |
766 | I>T | No |
ClinGen TOPMed |
|
|
rs1376882869 CA374479104 |
766 | I>V | No |
ClinGen TOPMed |
|
|
CA374479117 rs1564300948 |
767 | R>C | No |
ClinGen Ensembl |
|
|
CA5184607 rs760521422 |
769 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248308515 CA374479157 |
769 | M>L | No |
ClinGen TOPMed |
|
|
rs1274778340 CA374479228 |
773 | S>P | No |
ClinGen gnomAD |
|
|
rs750742896 CA5184609 |
774 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA374479275 rs1588054353 |
775 | F>S | No |
ClinGen Ensembl |
|
|
CA5184611 rs750833487 COSM201368 |
778 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs751712655 CA5184612 |
778 | R>H | No |
ClinGen ExAC gnomAD |
|
|
RCV000999202 rs754976866 CA5184613 |
780 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
VAR_041757 CA5184614 rs34614566 |
782 | E>D | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs753090342 CA5184615 |
784 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA374479414 rs1349236863 |
784 | D>E | No |
ClinGen gnomAD |
|
|
CA374479440 rs867146882 |
786 | W>* | No |
ClinGen TOPMed |
|
|
rs867146882 CA198363723 |
786 | W>C | No |
ClinGen TOPMed |
|
|
rs756563429 CA5184616 |
787 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1200922660 CA374479480 |
789 | G>A | No |
ClinGen gnomAD |
|
|
CA374479545 rs1564301135 |
795 | I>S | No |
ClinGen Ensembl |
|
|
rs778487184 CA5184618 COSM1645489 |
796 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA374479565 rs1410889717 |
797 | S>A | No |
ClinGen gnomAD |
|
|
CA5184623 rs533353279 |
804 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1158986610 CA374479683 |
807 | A>T | No |
ClinGen TOPMed |
|
|
CA374479729 rs1455145377 |
810 | E>D | No |
ClinGen TOPMed |
|
|
rs776545682 CA5184624 |
811 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs766741998 CA5184626 |
813 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5184627 rs774652957 |
814 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551520537 CA5184630 |
815 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5184631 rs551520537 COSM1161767 |
815 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA374479779 RCV000627333 rs1487680236 |
816 | R>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
COSM1104005 CA5184632 rs764486887 |
816 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs866137792 CA198363918 |
817 | D>N | No |
ClinGen Ensembl |
|
|
rs754220594 CA5184633 |
818 | G>D | No |
ClinGen ExAC gnomAD |
|
|
COSM12880 CA5184634 rs757577755 VAR_041758 |
819 | N>S | lung a lung neuroendocrine carcinoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
CA5184635 rs778542029 |
820 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA374479842 rs1180600991 |
822 | S>Y | No |
ClinGen gnomAD |
|
|
rs745452778 CA5184636 |
823 | C>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1215975 rs1262681536 CA374479881 |
825 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA5184637 rs757984021 |
826 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA374479905 rs1380591791 |
827 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs578430 CA198363956 |
829 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs578430 CA5184639 |
829 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1447638175 CA374479935 |
831 | L>V | No |
ClinGen gnomAD |
|
|
rs1247999308 CA374479971 |
833 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5184641 rs747964862 |
835 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs769657813 CA5184642 COSM1459295 |
836 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA374480016 rs1285790890 |
837 | L>V | No |
ClinGen gnomAD |
|
|
CA5184644 rs759676246 |
838 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011593420 CA198363972 |
839 | W>C | No |
ClinGen TOPMed |
|
|
rs1383497837 CA374480057 |
840 | S>N | No |
ClinGen TOPMed |
|
|
rs768074747 CA5184645 |
840 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198363987 rs1029214218 |
845 | D>G | No |
ClinGen Ensembl |
|
|
rs1452311017 CA374480150 |
850 | T>A | No |
ClinGen gnomAD |
|
|
COSM1569471 CA5184648 rs764615519 |
854 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
COSM1459296 rs754275653 CA5184649 |
854 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1385796852 CA374480194 |
857 | E>Q | No |
ClinGen gnomAD |
|
|
rs200450921 CA374480202 |
858 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748071334 CA198364020 |
860 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1588054854 CA374480223 |
861 | E>K | No |
ClinGen Ensembl |
|
|
CA5184652 rs750132076 |
865 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5184654 rs779710805 |
867 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs370094071 CA5184653 |
867 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1195620547 CA374480268 |
868 | S>N | No |
ClinGen TOPMed |
|
|
rs751063825 CA5184655 |
869 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs201134491 CA5184656 |
870 | V>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
2 associated diseases with O15146
[MIM: 616325]: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9)
A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS9 is a disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. {ECO:0000269|PubMed:15496425, ECO:0000269|PubMed:19949040, ECO:0000269|PubMed:20371544, ECO:0000269|PubMed:23326516, ECO:0000269|PubMed:24183479}. Note=The disease is caused by variants affecting the gene represented in this entry. MUSK mutations lead to decreased agrin-dependent AChR aggregation, a critical step in the formation of the neuromuscular junction.
[MIM: 208150]: Fetal akinesia deformation sequence 1 (FADS1)
A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS1 inheritance is autosomal recessive. {ECO:0000269|PubMed:25537362, ECO:0000269|PubMed:25612909}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS9 is a disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. {ECO:0000269|PubMed:15496425, ECO:0000269|PubMed:19949040, ECO:0000269|PubMed:20371544, ECO:0000269|PubMed:23326516, ECO:0000269|PubMed:24183479}. Note=The disease is caused by variants affecting the gene represented in this entry. MUSK mutations lead to decreased agrin-dependent AChR aggregation, a critical step in the formation of the neuromuscular junction.
- A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS1 inheritance is autosomal recessive. {ECO:0000269|PubMed:25537362, ECO:0000269|PubMed:25612909}. Note=The disease is caused by variants affecting the gene represented in this entry.
13 regional properties for O15146
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 576 - 856 | IPR001245 |
| domain | Immunoglobulin subtype 2 | 40 - 106 | IPR003598-1 |
| domain | Immunoglobulin subtype 2 | 133 - 197 | IPR003598-2 |
| domain | Immunoglobulin subtype 2 | 224 - 289 | IPR003598-3 |
| domain | Immunoglobulin subtype | 34 - 118 | IPR003599-1 |
| domain | Immunoglobulin subtype | 127 - 209 | IPR003599-2 |
| domain | Immunoglobulin subtype | 218 - 300 | IPR003599-3 |
| domain | Immunoglobulin-like domain | 28 - 116 | IPR007110-1 |
| domain | Immunoglobulin-like domain | 121 - 205 | IPR007110-2 |
| domain | Immunoglobulin-like domain | 212 - 302 | IPR007110-3 |
| active_site | Tyrosine-protein kinase, active site | 721 - 733 | IPR008266 |
| binding_site | Protein kinase, ATP binding site | 581 - 609 | IPR017441 |
| domain | Frizzled domain | 312 - 450 | IPR020067 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.1 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24416 | TYROSINE-PROTEIN KINASE RECEPTOR |
| PANTHER Subfamily | PTHR24416:SF317 | MUSCLE, SKELETAL RECEPTOR TYROSINE-PROTEIN KINASE |
| PANTHER Protein Class | transmembrane signal receptor | |
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| neuromuscular junction | The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
| postsynaptic membrane | A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| collagen binding | Binding to collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). |
| metal ion binding | Binding to a metal ion. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
| protein tyrosine kinase activity | Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
| protein tyrosine kinase collagen receptor activity | Combining with collagen and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. |
| transmembrane receptor protein tyrosine kinase activity | Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| memory | The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). |
| neuromuscular junction development | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a neuromuscular junction. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of kinase activity | Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
| positive regulation of protein geranylgeranylation | Any process that activates or increases the frequency, rate or extent of protein geranylgeranylation. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| regulation of synaptic assembly at neuromuscular junction | Any process that modulates the frequency, rate or extent of synaptic assembly at neuromuscular junctions. |
| skeletal muscle acetylcholine-gated channel clustering | The accumulation of acetylcholine-gated cation channels in a narrow, central region of muscle fibers, in apposition to nerve terminals. |
| transmembrane receptor protein tyrosine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
67 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q91044 | NTRK3 | NT-3 growth factor receptor | Gallus gallus (Chicken) | SS |
| Q91987 | NTRK2 | BDNF/NT-3 growth factors receptor | Gallus gallus (Chicken) | SS |
| Q91009 | NTRK1 | High affinity nerve growth factor receptor | Gallus gallus (Chicken) | SS |
| Q8AXY6 | MUSK | Muscle, skeletal receptor tyrosine protein kinase | Gallus gallus (Chicken) | SS |
| Q5IS37 | NTRK3 | NT-3 growth factor receptor | Pan troglodytes (Chimpanzee) | SS |
| Q24488 | Ror | Tyrosine-protein kinase transmembrane receptor Ror | Drosophila melanogaster (Fruit fly) | SS |
| Q9V6K3 | Nrk | Tyrosine-protein kinase transmembrane receptor Ror2 | Drosophila melanogaster (Fruit fly) | SS |
| P07949 | RET | Proto-oncogene tyrosine-protein kinase receptor Ret | Homo sapiens (Human) | EV |
| Q01974 | ROR2 | Tyrosine-protein kinase transmembrane receptor ROR2 | Homo sapiens (Human) | EV |
| Q01973 | ROR1 | Inactive tyrosine-protein kinase transmembrane receptor ROR1 | Homo sapiens (Human) | PR |
| Q16832 | DDR2 | Discoidin domain-containing receptor 2 | Homo sapiens (Human) | SS |
| Q08345 | DDR1 | Epithelial discoidin domain-containing receptor 1 | Homo sapiens (Human) | EV |
| Q16620 | NTRK2 | BDNF/NT-3 growth factors receptor | Homo sapiens (Human) | EV |
| P04629 | NTRK1 | High affinity nerve growth factor receptor | Homo sapiens (Human) | EV |
| Q16288 | NTRK3 | NT-3 growth factor receptor | Homo sapiens (Human) | SS |
| P35916 | FLT4 | Vascular endothelial growth factor receptor 3 | Homo sapiens (Human) | SS |
| P17948 | FLT1 | Vascular endothelial growth factor receptor 1 | Homo sapiens (Human) | SS |
| P35968 | KDR | Vascular endothelial growth factor receptor 2 | Homo sapiens (Human) | EV |
| P29317 | EPHA2 | Ephrin type-A receptor 2 | Homo sapiens (Human) | SS |
| P21709 | EPHA1 | Ephrin type-A receptor 1 | Homo sapiens (Human) | SS |
| P54760 | EPHB4 | Ephrin type-B receptor 4 | Homo sapiens (Human) | SS |
| P29376 | LTK | Leukocyte tyrosine kinase receptor | Homo sapiens (Human) | SS |
| Q9UM73 | ALK | ALK tyrosine kinase receptor | Homo sapiens (Human) | EV |
| P08922 | ROS1 | Proto-oncogene tyrosine-protein kinase ROS | Homo sapiens (Human) | SS |
| P14616 | INSRR | Insulin receptor-related protein | Homo sapiens (Human) | SS |
| P08069 | IGF1R | Insulin-like growth factor 1 receptor | Homo sapiens (Human) | EV |
| P06213 | INSR | Insulin receptor | Homo sapiens (Human) | EV |
| P11362 | FGFR1 | Fibroblast growth factor receptor 1 | Homo sapiens (Human) | EV |
| P21802 | FGFR2 | Fibroblast growth factor receptor 2 | Homo sapiens (Human) | EV |
| P22455 | FGFR4 | Fibroblast growth factor receptor 4 | Homo sapiens (Human) | SS |
| P22607 | FGFR3 | Fibroblast growth factor receptor 3 | Homo sapiens (Human) | EV |
| Q12866 | MERTK | Tyrosine-protein kinase Mer | Homo sapiens (Human) | EV |
| Q04912 | MST1R | Macrophage-stimulating protein receptor | Homo sapiens (Human) | EV |
| P30530 | AXL | Tyrosine-protein kinase receptor UFO | Homo sapiens (Human) | PR |
| Q06418 | TYRO3 | Tyrosine-protein kinase receptor TYRO3 | Homo sapiens (Human) | SS |
| P08581 | MET | Hepatocyte growth factor receptor | Homo sapiens (Human) | EV |
| P04626 | ERBB2 | Receptor tyrosine-protein kinase erbB-2 | Homo sapiens (Human) | SS |
| Q15303 | ERBB4 | Receptor tyrosine-protein kinase erbB-4 | Homo sapiens (Human) | SS |
| P21860 | ERBB3 | Receptor tyrosine-protein kinase erbB-3 | Homo sapiens (Human) | SS |
| P00533 | EGFR | Epidermal growth factor receptor | Homo sapiens (Human) | EV |
| P34925 | RYK | Tyrosine-protein kinase RYK | Homo sapiens (Human) | PR |
| Q02763 | TEK | Angiopoietin-1 receptor | Homo sapiens (Human) | SS |
| P35590 | TIE1 | Tyrosine-protein kinase receptor Tie-1 | Homo sapiens (Human) | PR |
| P10721 | KIT | Mast/stem cell growth factor receptor Kit | Homo sapiens (Human) | EV |
| P09619 | PDGFRB | Platelet-derived growth factor receptor beta | Homo sapiens (Human) | EV |
| P07333 | CSF1R | Macrophage colony-stimulating factor 1 receptor | Homo sapiens (Human) | SS |
| P16234 | PDGFRA | Platelet-derived growth factor receptor alpha | Homo sapiens (Human) | EV |
| P36888 | FLT3 | Receptor-type tyrosine-protein kinase FLT3 | Homo sapiens (Human) | EV |
| P15209 | Ntrk2 | BDNF/NT-3 growth factors receptor | Mus musculus (Mouse) | SS |
| Q3UFB7 | Ntrk1 | High affinity nerve growth factor receptor | Mus musculus (Mouse) | SS |
| Q6VNS1 | Ntrk3 | NT-3 growth factor receptor | Mus musculus (Mouse) | SS |
| Q9Z138 | Ror2 | Tyrosine-protein kinase transmembrane receptor ROR2 | Mus musculus (Mouse) | SS |
| Q9Z139 | Ror1 | Inactive tyrosine-protein kinase transmembrane receptor ROR1 | Mus musculus (Mouse) | PR |
| Q61006 | Musk | Muscle, skeletal receptor tyrosine-protein kinase | Mus musculus (Mouse) | SS |
| P24786 | NTRK3 | NT-3 growth factor receptor | Sus scrofa (Pig) | SS |
| P35739 | Ntrk1 | High affinity nerve growth factor receptor | Rattus norvegicus (Rat) | SS |
| Q03351 | Ntrk3 | NT-3 growth factor receptor | Rattus norvegicus (Rat) | SS |
| Q63604 | Ntrk2 | BDNF/NT-3 growth factors receptor | Rattus norvegicus (Rat) | SS |
| Q62838 | Musk | Muscle, skeletal receptor tyrosine protein kinase | Rattus norvegicus (Rat) | SS |
| G5EGK5 | cam-1 | Tyrosine-protein kinase receptor cam-1 | Caenorhabditis elegans | SS |
| P43298 | TMK1 | Receptor protein kinase TMK1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8LPS5 | SERK5 | Somatic embryogenesis receptor kinase 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94C77 | At4g34220 | Receptor protein kinase-like protein At4g34220 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q93ZS4 | NIK3 | Protein NSP-INTERACTING KINASE 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9XIC7 | SERK2 | Somatic embryogenesis receptor kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| C0LGX1 | At5g65240 | Probable LRR receptor-like serine/threonine-protein kinase At5g65240 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LFG1 | At3g53590 | Putative leucine-rich repeat receptor-like serine/threonine-protein kinase At3g53590 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRELVNIPLV | HILTLVAFSG | TEKLPKAPVI | TTPLETVDAL | VEEVATFMCA | VESYPQPEIS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WTRNKILIKL | FDTRYSIREN | GQLLTILSVE | DSDDGIYCCT | ANNGVGGAVE | SCGALQVKMK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PKITRPPINV | KIIEGLKAVL | PCTTMGNPKP | SVSWIKGDSP | LRENSRIAVL | ESGSLRIHNV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QKEDAGQYRC | VAKNSLGTAY | SKVVKLEVEV | FARILRAPES | HNVTFGSFVT | LHCTATGIPV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PTITWIENGN | AVSSGSIQES | VKDRVIDSRL | QLFITKPGLY | TCIATNKHGE | KFSTAKAAAT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ISIAEWSKPQ | KDNKGYCAQY | RGEVCNAVLA | KDALVFLNTS | YADPEEAQEL | LVHTAWNELK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VVSPVCRPAA | EALLCNHIFQ | ECSPGVVPTP | IPICREYCLA | VKELFCAKEW | LVMEEKTHRG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LYRSEMHLLS | VPECSKLPSM | HWDPTACARL | PHLDYNKENL | KTFPPMTSSK | PSVDIPNLPS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SSSSSFSVSP | TYSMTVIISI | MSSFAIFVLL | TITTLYCCRR | RKQWKNKKRE | SAAVTLTTLP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SELLLDRLHP | NPMYQRMPLL | LNPKLLSLEY | PRNNIEYVRD | IGEGAFGRVF | QARAPGLLPY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EPFTMVAVKM | LKEEASADMQ | ADFQREAALM | AEFDNPNIVK | LLGVCAVGKP | MCLLFEYMAY |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GDLNEFLRSM | SPHTVCSLSH | SDLSMRAQVS | SPGPPPLSCA | EQLCIARQVA | AGMAYLSERK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FVHRDLATRN | CLVGENMVVK | IADFGLSRNI | YSADYYKANE | NDAIPIRWMP | PESIFYNRYT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TESDVWAYGV | VLWEIFSYGL | QPYYGMAHEE | VIYYVRDGNI | LSCPENCPVE | LYNLMRLCWS |
| 850 | 860 | ||||
| KLPADRPSFT | SIHRILERMC | ERAEGTVSV |