P35609
EV
Gene name |
ACTN2 |
Protein name |
Alpha-actinin-2 |
Names |
Alpha-actinin skeletal muscle isoform 2, F-actin cross-linking protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:88 |
EC number |
|
Protein Class |
SPECTRIN/FILAMIN RELATED CYTOSKELETAL PROTEIN (PTHR11915) |
Descriptions
ACTN2 is a major F-actin cross-linking protein in both muscle and non-muscle cells and a major multivalent platform mediating interactions with many cytoskeletal or regulatory proteins. An interaction between the C-terminal region of ACTN2 and the Z-repeat motifs of Titin protein targets ACTN2 to the Z-disk. Full-length ACTN2 does not bind Z-repeats. ACTN2 has a region that acts as a pseudo-Z-repeat between the actin-binding domain (ABD) and the spectrin-like repeats (R1), and this region prevents ACTN2 from binding to the Z-repeat of Titin protein. This autoinhibition is relieved upon binding of the Z-disk lipid phosphatidylinositol-bisphosphate to the ABD of ACTN2.
Autoinhibitory domains (AIDs)
Target domain |
747-894 (EF-hand domain) |
Relief mechanism |
Ligand binding |
Assay |
Deletion assay, Split protein assay |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
16 structures for P35609
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1H8B | NMR | - | A | 822-894 | PDB |
| 1HCI | X-ray | 280 A | A/B | 274-746 | PDB |
| 1QUU | X-ray | 250 A | A | 391-637 | PDB |
| 4D1E | X-ray | 350 A | A | 19-894 | PDB |
| 5A36 | X-ray | 200 A | A/B | 19-266 | PDB |
| 5A37 | X-ray | 188 A | A/B | 19-266 | PDB |
| 5A38 | X-ray | 190 A | A/B | 19-266 | PDB |
| 5A4B | X-ray | 201 A | A/B | 19-266 | PDB |
| 6SWT | X-ray | 120 A | A | 19-270 | PDB |
| 6TS3 | X-ray | 128 A | A/B | 825-894 | PDB |
| 7A8T | X-ray | 269 A | A | 274-746 | PDB |
| 7A8U | X-ray | 380 A | A | 274-746 | PDB |
| 7B55 | X-ray | 160 A | A | 825-894 | PDB |
| 7B56 | X-ray | 145 A | A | 825-894 | PDB |
| 7B57 | X-ray | 195 A | A | 825-894 | PDB |
| AF-P35609-F1 | Predicted | AlphaFoldDB |
752 variants for P35609
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA090885 VAR_054628 rs121434525 |
9 | Q>R | CMD1AA [UniProt] | Yes |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886046205 RCV000265212 CA10610583 |
11 | N>H | Dilated cardiomyopathy 1AA [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346149 RCV000157095 rs730880040 |
28 | R>C | Ventricular fibrillation [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000329449 CA1472706 rs781746567 |
41 | R>K | Dilated cardiomyopathy 1AA [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001029823 rs1572112489 CA345373407 |
77 | E>* | Dilated cardiomyopathy 1AA [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA345373467 rs1558232396 RCV000768497 |
85 | P>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001170232 rs1658302811 |
117 | I>missing | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_071970 rs727502886 CA199276 |
119 | A>T | CMH23 and CMD1AA [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA345373995 VAR_083364 rs1572114611 RCV000855693 |
131 | L>P | MPD6; unknown pathological significance Myopathy, distal, 6, adult-onset, autosomal dominant [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1572114671 RCV000845099 CA345374164 |
144 | Q>L | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001256795 rs1658537424 |
155 | E>K | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786205144 VAR_074292 RCV000621721 RCV000169907 RCV001785487 CA274533 |
228 | M>T | Dilated cardiomyopathy 1AA CMH23 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1572132678 CA345380091 RCV001170237 |
310 | E>K | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000768729 rs1407369744 CA345380325 |
320 | L>R | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000280868 CA10610586 rs886046206 RCV000375378 |
344 | N>T | Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1659115252 RCV001331628 |
379 | E>* | Dilated cardiomyopathy 1AA [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863225115 COSM533513 RCV000201467 CA279291 |
409 | K>R | lung Dilated cardiomyopathy 1AA [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001097292 CA1473080 rs763060410 |
413 | H>L | Dilated cardiomyopathy 1AA [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA345382492 rs1558243189 RCV000768736 |
414 | E>K | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA345383973 RCV000855694 rs1572140109 VAR_083365 |
487 | C>R | MPD6 Myopathy, distal, 6, adult-onset, autosomal dominant [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA133141 VAR_071971 rs200248944 |
495 | T>M | CMH23 [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1413564541 CA345384170 RCV001593268 RCV001100854 |
498 | Q>H | Dilated cardiomyopathy 1AA [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000769760 rs772606052 CA39737345 |
508 | E>D | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001170998 CA1473238 rs764719024 |
576 | M>V | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_071972 CA1473243 rs200631005 |
583 | E>A | CMH23 [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs786204951 RCV000169903 VAR_071973 CA199275 |
628 | E>G | Familial hypertrophic cardiomyopathy 23 CMH23 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001101125 CA1473335 rs758071137 |
689 | K>E | Dilated cardiomyopathy 1AA [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA345387608 RCV000656150 rs1553304459 |
692 | I>N | Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA345388609 RCV000735246 rs546431200 |
721 | R>L | Dilated cardiomyopathy 1AA [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1572148902 CA345388702 RCV000855691 VAR_083366 |
727 | L>R | MYOCOZ Myopathy, congenital, with structured cores and z-line abnormalities [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1572148914 RCV000855692 |
732 | A>missing | Myopathy, congenital, with structured cores and z-line abnormalities [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000169902 rs786204950 CA199273 |
759 | R>T | Familial hypertrophic cardiomyopathy 23 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772733279 RCV000208385 CA070495 |
806 | Q>* | Cardiomyopathy, left ventricular noncompaction [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001776166 rs764315978 RCV001267337 CA1473461 |
836 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000036904 RCV000601835 RCV001699107 CA133188 rs397516577 |
863 | I>L | Dilated cardiomyopathy 1AA [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1472692 rs755508640 |
2 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345358060 rs1553295387 |
3 | Q>H | No |
ClinGen Ensembl |
|
|
CA345358073 rs1482303680 |
4 | I>K | No |
ClinGen gnomAD |
|
|
CA1472693 rs781720338 |
4 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA345358076 rs1255377980 |
5 | E>K | No |
ClinGen gnomAD |
|
|
rs1428900516 CA345358083 |
6 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1057523721 CA16603593 |
7 | G>S | No |
ClinGen TOPMed |
|
|
CA345358094 COSM1601954 rs551141480 |
8 | V>L | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA1472694 rs551141480 |
8 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1464103836 CA345358109 |
10 | Y>C | No |
ClinGen gnomAD |
|
|
rs1449856891 CA345358117 |
11 | N>S | No |
ClinGen TOPMed |
|
|
CA345358138 rs1302783639 |
12 | Y>* | No |
ClinGen gnomAD |
|
|
rs1386246024 CA345358140 |
13 | V>L | No |
ClinGen gnomAD |
|
|
CA345358186 rs1181394258 |
15 | D>A | No |
ClinGen TOPMed |
|
|
CA1472696 rs771424965 |
15 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA345358177 rs1242103284 |
15 | D>N | No |
ClinGen TOPMed |
|
|
rs775052416 CA1472697 |
16 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1305880301 CA345358206 |
17 | D>Y | No |
ClinGen gnomAD |
|
|
CA1472698 rs768605809 |
18 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1237522987 CA345358224 |
18 | E>G | No |
ClinGen TOPMed |
|
|
CA1472699 rs776456711 |
20 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345358241 rs1203291298 |
20 | M>V | No |
ClinGen TOPMed |
|
|
rs1553295414 CA345358257 |
22 | Q>* | No |
ClinGen Ensembl |
|
|
CA16042379 RCV000413316 rs1057518609 |
22 | Q>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1229509268 CA345358263 |
23 | E>Q | No |
ClinGen TOPMed |
|
|
CA345358277 rs1189880689 |
24 | E>D | No |
ClinGen gnomAD |
|
|
CA1472701 rs765471221 |
27 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs730880040 CA345358324 |
28 | R>S | No |
ClinGen gnomAD |
|
|
rs1193949299 CA345358341 |
29 | D>G | No |
ClinGen gnomAD |
|
|
CA1472702 rs750574123 |
29 | D>N | No |
ClinGen ExAC |
|
|
rs1313122387 CA345358436 |
37 | E>K | No |
ClinGen TOPMed |
|
|
rs376510300 CA1472704 |
38 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1311487466 CA345373191 |
46 | A>S | No |
ClinGen gnomAD |
|
|
rs1355201860 CA345373198 |
47 | W>* | No |
ClinGen gnomAD |
|
|
CA345373202 rs1440601876 |
47 | W>C | No |
ClinGen Ensembl |
|
|
rs794728959 CA335003 |
48 | C>S | No |
ClinGen Ensembl |
|
|
CA1472724 rs756675368 |
49 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs779704744 CA1472727 COSM680011 |
56 | G>D | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs758034866 CA1472726 COSM338656 |
56 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1184086655 CA345373265 |
57 | T>I | No |
ClinGen gnomAD |
|
|
rs1412151385 CA345373277 |
59 | I>V | No |
ClinGen gnomAD |
|
|
rs781118555 RCV000788618 CA1472729 |
65 | D>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1558231952 CA345373386 |
73 | M>I | No |
ClinGen Ensembl |
|
|
CA345373381 rs1427926695 |
73 | M>K | No |
ClinGen gnomAD |
|
|
CA345373382 rs1427926695 |
73 | M>T | No |
ClinGen gnomAD |
|
|
rs1372576094 CA345373380 |
73 | M>V | No |
ClinGen gnomAD |
|
|
rs748154044 CA1472730 |
78 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376117612 CA345373419 |
79 | I>V | No |
ClinGen gnomAD |
|
|
CA39709743 rs139424431 |
82 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA345373461 rs376981679 |
83 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1472753 rs376981679 |
83 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA345373476 rs1188244978 |
86 | K>T | No |
ClinGen gnomAD |
|
|
CA1472755 rs772390012 |
89 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1472754 rs369629689 |
89 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA39709762 rs867564727 |
90 | G>R | No |
ClinGen Ensembl |
|
|
rs775761356 CA1472756 |
92 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs760787515 CA39709780 |
93 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA335005 rs777124854 |
93 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1472758 rs760787515 |
93 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572113430 CA345373525 RCV000845555 |
94 | F>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1472760 rs149871432 |
101 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs546727550 CA39709819 |
109 | S>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1472762 rs148628141 |
111 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs786204949 CA199271 |
111 | G>V | No |
ClinGen Ensembl |
|
|
rs397516579 CA133196 |
115 | V>M | No |
ClinGen Ensembl |
|
|
rs1341864 CA345373684 |
117 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345373679 rs1343641929 |
117 | I>V | No |
ClinGen gnomAD |
|
|
rs1131691370 CA345373687 RCV000494557 |
118 | G>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA335007 rs794728960 |
118 | G>D | No |
ClinGen Ensembl |
|
|
CA345373760 rs1572114606 |
127 | V>L | No |
ClinGen Ensembl |
|
|
CA345374010 rs1314049983 |
133 | M>V | No |
ClinGen gnomAD |
|
|
rs770368711 CA336235 |
134 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16609986 rs1060503684 |
135 | W>G | No |
ClinGen Ensembl |
|
|
CA345374060 rs1242994952 |
136 | T>S | No |
ClinGen gnomAD |
|
|
CA345374103 rs1131691439 |
140 | R>C | No |
ClinGen Ensembl |
|
|
rs370689695 COSM3385914 CA1472793 |
140 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
RCV000171170 CA235782 rs786205453 |
143 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs867980963 CA39710541 |
144 | Q>K | No |
ClinGen Ensembl |
|
|
CA345374177 rs1343088678 |
145 | D>G | No |
ClinGen gnomAD |
|
|
rs1196217561 CA345374173 |
145 | D>Y | No |
ClinGen gnomAD |
|
|
rs749667083 CA1472794 |
147 | S>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000242521 CA10587425 rs886038915 |
147 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1378226503 CA345374212 |
148 | V>L | No |
ClinGen TOPMed |
|
|
rs748268010 CA1472808 |
151 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA345374568 rs1233991947 |
156 | G>C | No |
ClinGen gnomAD |
|
|
rs1558235334 CA345374607 |
160 | W>R | No |
ClinGen Ensembl |
|
|
rs1346992520 CA345374677 |
165 | T>A | No |
ClinGen gnomAD |
|
|
rs794728961 CA335009 |
166 | A>P | No |
ClinGen Ensembl |
|
|
rs1198632374 CA345374701 |
167 | P>S | No |
ClinGen gnomAD |
|
|
rs1198632374 CA345374697 |
167 | P>T | No |
ClinGen gnomAD |
|
|
CA185199 rs727505146 |
169 | R>T | No |
ClinGen gnomAD |
|
|
rs148954170 CA1472810 |
170 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1057523249 CA1472811 |
170 | N>I | No |
ClinGen Ensembl |
|
|
rs1057523249 RCV000436648 CA16603608 |
170 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA335054 rs749860792 |
173 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345374796 rs1192315443 |
174 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA345374794 rs1192315443 |
174 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1427430533 CA345374803 |
174 | Q>L | No |
ClinGen gnomAD |
|
|
rs1176106230 CA345374877 |
178 | T>I | No |
ClinGen gnomAD |
|
|
CA345375329 rs1558236027 |
180 | W>R | No |
ClinGen Ensembl |
|
|
rs779350391 CA1472833 |
181 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405476528 CA345375361 |
184 | L>F | No |
ClinGen TOPMed |
|
|
CA1472834 rs371930065 |
186 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1472835 rs371930065 |
186 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772894420 CA1472838 |
189 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1572121844 CA345375468 |
191 | H>Q | No |
ClinGen Ensembl |
|
|
CA345375461 rs1221029928 |
191 | H>Y | No |
ClinGen gnomAD |
|
|
CA345375471 rs1253211384 COSM464195 |
192 | R>* | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs200316891 CA237009 |
192 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1472841 rs528123945 |
194 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1472840 rs774101763 |
194 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1472843 rs752506418 |
195 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs760937883 CA1472844 |
197 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1060503687 CA16609987 |
201 | S>P | No |
ClinGen Ensembl |
|
|
CA345375607 rs1558236091 |
202 | K>N | No |
ClinGen Ensembl |
|
|
CA39715547 rs1000457581 |
203 | L>R | No |
ClinGen Ensembl |
|
|
CA1472847 rs757259320 |
204 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs753948465 CA1472846 |
204 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA39718885 rs148048699 |
206 | D>G | No |
ClinGen ESP |
|
|
CA335011 RCV000183249 rs794728962 |
207 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA345375777 rs1418595012 |
208 | P>L | No |
ClinGen TOPMed |
|
|
rs751979954 CA1472870 |
210 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA345375810 rs1188575946 |
213 | N>K | No |
ClinGen TOPMed |
|
|
rs758419978 CA39718887 |
213 | N>S | No |
ClinGen Ensembl |
|
|
rs749019847 CA1472873 |
216 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000610287 rs1246542277 CA345375846 |
219 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553301462 CA345375894 |
225 | I>S | No |
ClinGen Ensembl |
|
|
CA1472876 rs141793230 |
229 | L>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139489232 CA133208 |
230 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345375928 rs1371730126 |
230 | D>G | No |
ClinGen gnomAD |
|
|
rs904672923 CA39718937 |
233 | D>N | No |
ClinGen TOPMed |
|
|
rs794728963 RCV000183250 CA335013 |
234 | I>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs794728963 CA345377262 |
234 | I>V | No |
ClinGen Ensembl |
|
|
CA335015 rs754929573 |
235 | V>M | No |
ClinGen ExAC gnomAD |
|
|
RCV000613173 CA345377297 rs1193355360 |
236 | N>D | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs747910896 CA1472917 |
237 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1342620732 CA345377389 |
241 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA39722533 rs938796645 |
244 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1441843295 CA345377467 |
245 | I>V | No |
ClinGen TOPMed |
|
|
RCV000036917 rs397516582 CA133212 |
246 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs755492182 CA39722542 |
247 | T>M | No |
ClinGen Ensembl |
|
|
rs1413199025 CA345377554 |
249 | V>A | No |
ClinGen gnomAD |
|
|
rs771260546 CA1472921 |
249 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1060503682 CA16609980 |
255 | A>T | No |
ClinGen gnomAD |
|
|
CA345377691 rs1337069615 |
256 | F>S | No |
ClinGen TOPMed |
|
|
CA1472922 rs759652494 COSM1181735 |
257 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs1292826824 CA345377709 |
258 | G>S | No |
ClinGen gnomAD |
|
|
rs574401232 CA39722598 |
259 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1472925 rs566552494 |
259 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1242086183 CA345377739 |
260 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1472927 rs189862112 |
261 | Q>L | No |
ClinGen 1000Genomes ExAC |
|
|
CA1472971 rs753887853 |
263 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA39724073 rs794728965 |
265 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA335018 rs794728965 |
265 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs141416949 COSM106660 CA39724111 |
268 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA1472973 rs765161586 |
269 | I>V | No |
ClinGen ExAC |
|
|
CA10576393 rs876657743 |
276 | N>D | No |
ClinGen Ensembl |
|
|
CA345378900 rs1251167126 |
276 | N>T | No |
ClinGen gnomAD |
|
|
RCV000602165 CA345378913 rs1553302181 |
277 | Q>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA345378971 rs1185669121 |
280 | E>D | No |
ClinGen gnomAD |
|
|
CA39724134 rs1022501985 |
281 | R>K | No |
ClinGen Ensembl |
|
|
rs1444113471 CA345379032 |
283 | M>T | No |
ClinGen gnomAD |
|
|
CA345379062 rs758712415 |
284 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1472976 rs780098642 |
285 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA345379162 rs1572130611 |
291 | S>R | No |
ClinGen Ensembl |
|
|
CA1473000 rs749671169 |
297 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA16609993 rs1060503683 COSM906075 |
298 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs142482143 CA133224 |
298 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779109533 CA1473001 |
299 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473002 rs746677039 |
299 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473003 rs746677039 |
299 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473004 rs746677039 |
299 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473007 rs144025957 |
300 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1473006 rs144025957 |
300 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000788844 CA1473009 rs766129106 |
301 | I>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1486360274 CA345379985 |
302 | P>L | No |
ClinGen TOPMed |
|
|
rs1208029523 CA345379972 |
302 | P>T | No |
ClinGen TOPMed |
|
|
CA1473010 rs751349296 |
305 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1281750006 CA345380022 |
305 | E>K | No |
ClinGen TOPMed |
|
|
rs148646265 CA345380051 |
306 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1473012 rs148646265 |
306 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs112882610 CA16610061 |
307 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs752782663 CA1473013 |
307 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA335021 rs146568303 |
309 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1247335157 CA345380081 |
309 | P>S | No |
ClinGen gnomAD |
|
|
rs754373136 CA1473014 |
313 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA39725680 rs754373136 |
313 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1473016 rs779193065 |
315 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA345380235 rs779193065 |
315 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs370757762 CA1473017 |
316 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345380244 rs1409649756 |
316 | M>V | No |
ClinGen gnomAD |
|
|
rs970567732 CA39725705 |
317 | Q>R | No |
ClinGen gnomAD |
|
|
rs754614411 CA1473018 |
319 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1416760371 CA345380346 |
322 | D>N | No |
ClinGen TOPMed |
|
|
CA345380402 rs1240148760 |
324 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1240148760 CA345380398 |
324 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs747674727 CA1473020 |
324 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572132716 CA345380431 |
326 | Y>S | No |
ClinGen Ensembl |
|
|
rs769485633 CA1473021 |
327 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs554811924 COSM238673 CA1473022 |
327 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs554811924 CA345380445 |
327 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774046373 CA1473025 |
328 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473024 rs770855273 |
328 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345380515 rs1266618599 |
332 | P>Q | No |
ClinGen gnomAD |
|
|
rs759309723 CA1473026 |
332 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA39725737 rs984180106 |
333 | P>T | No |
ClinGen Ensembl |
|
|
CA1473027 rs767743838 |
334 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs775751703 CA1473028 |
335 | V>L | No |
ClinGen ExAC |
|
|
CA1473029 rs760884869 |
337 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA39725757 rs911458179 |
338 | K>I | No |
ClinGen Ensembl |
|
|
rs1234368540 CA345380639 |
342 | E>G | No |
ClinGen gnomAD |
|
|
COSM1501666 rs772347284 CA345380647 |
343 | I>F | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA39725787 rs772347284 |
343 | I>V | No |
ClinGen Ensembl |
|
|
CA345380658 rs886046206 |
344 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs727504590 CA183434 |
347 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473031 rs753929778 |
347 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs376335356 CA336136 |
349 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1501665 rs1392451735 CA345380770 |
352 | L>Q | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA39725793 rs1150181 |
353 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780552939 CA1473033 |
353 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1150181 CA133107 |
353 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345380792 rs1558241489 |
355 | S>G | No |
ClinGen Ensembl |
|
|
rs1385106645 CA345380818 |
356 | N>K | No |
ClinGen gnomAD |
|
|
CA1473034 rs747874677 |
356 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473035 rs755807415 |
357 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs730880041 CA346152 |
357 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345380824 rs1355611641 |
358 | P>T | No |
ClinGen gnomAD |
|
|
CA1473036 rs368409665 |
361 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs572523462 CA1473037 COSM210465 |
364 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs745783998 CA1473038 |
365 | G>D | No |
ClinGen ExAC |
|
|
CA345380882 rs1243320734 |
366 | K>N | No |
ClinGen gnomAD |
|
|
CA1473039 rs771923322 |
367 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA345380893 rs1181262427 |
368 | V>L | No |
ClinGen gnomAD |
|
|
CA1473040 rs747400815 |
369 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345380902 rs747400815 |
369 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345381900 rs1324659627 |
370 | D>E | No |
ClinGen gnomAD |
|
|
rs776851017 CA1473061 |
370 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1473062 rs143200575 |
372 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769980647 CA1473063 |
373 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs773134284 CA1473064 |
376 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1325419598 CA345382034 |
377 | R>K | No |
ClinGen gnomAD |
|
|
rs1572135470 CA345382064 |
379 | E>G | No |
ClinGen Ensembl |
|
|
CA39729057 rs892745227 |
380 | Q>R | No |
ClinGen Ensembl |
|
|
rs766953315 CA1473066 |
382 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA39729058 rs929710704 |
385 | Y>F | No |
ClinGen TOPMed |
|
|
rs767763639 CA1473068 |
386 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473069 rs376144003 |
388 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345382221 rs1479627329 |
390 | L>P | No |
ClinGen gnomAD |
|
|
CA1473070 rs547711260 |
391 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1473071 rs778538969 |
392 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1473073 rs758358941 |
394 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs559395092 CA1473072 |
394 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148189507 CA1473075 |
398 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345382299 rs148189507 |
398 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1473076 rs752906680 |
398 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39729120 rs752906680 |
398 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473077 rs780843630 |
401 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA345382352 rs1304791812 |
402 | L>V | No |
ClinGen TOPMed |
|
|
CA345382367 rs1300208796 |
403 | A>V | No |
ClinGen gnomAD |
|
|
CA345382377 rs1379352019 |
404 | E>D | No |
ClinGen TOPMed |
|
|
rs1425028543 CA345382370 |
404 | E>K | No |
ClinGen TOPMed |
|
|
rs1558243133 CA891842511 |
404 | E>K | No |
ClinGen Ensembl |
|
|
RCV000788654 rs1572135580 CA345382401 |
406 | F>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA345382408 COSM1340375 rs1156429656 |
407 | R>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA345382420 rs1317189454 |
407 | R>S | No |
ClinGen gnomAD |
|
|
rs1240724639 CA345382427 |
408 | Q>E | No |
ClinGen gnomAD |
|
|
CA345382443 rs1420385594 |
409 | K>E | No |
ClinGen TOPMed |
|
|
rs1407988428 CA345382458 |
410 | A>D | No |
ClinGen TOPMed |
|
|
CA345382456 rs1258500915 |
410 | A>S | No |
ClinGen gnomAD |
|
|
rs748441967 CA1473078 |
411 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs769884839 CA1473079 |
412 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs139515659 CA133114 COSM271087 |
412 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1473081 rs771579640 |
413 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345382499 rs1157192892 |
414 | E>G | No |
ClinGen gnomAD |
|
|
rs1164161500 CA345382571 |
419 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775950605 CA1473105 |
422 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA39730254 rs1012236976 |
423 | I>M | No |
ClinGen Ensembl |
|
|
rs760877237 CA1473106 |
424 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1572137003 CA345382630 |
425 | L>P | No |
ClinGen Ensembl |
|
|
rs764881077 RCV000183258 CA335023 |
429 | Y>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA345382660 rs1205799302 |
429 | Y>C | No |
ClinGen gnomAD |
|
|
CA1473108 rs370865082 |
430 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370865082 CA1473109 |
430 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM425670 CA1473111 rs149846886 |
431 | S>L | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1473113 rs767291633 |
432 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181102 COSM1296042 rs143749154 |
433 | S>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA345382683 COSM400978 rs143749154 |
433 | S>W | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1457759978 CA345382685 |
434 | L>V | No |
ClinGen TOPMed |
|
|
CA1473114 rs777708633 |
435 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473115 rs757533518 |
436 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs199955427 CA335025 |
436 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199955427 CA1473116 |
436 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1478858337 CA345382702 |
437 | V>A | No |
ClinGen TOPMed |
|
|
rs772634867 CA1473117 |
437 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs747534491 CA1473118 |
438 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs563171274 CA237011 |
438 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1473120 rs776947613 |
442 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473119 rs769073315 |
442 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473121 rs762641833 |
443 | K>M | No |
ClinGen ExAC gnomAD |
|
|
RCV000482666 CA16617091 rs1064796600 |
444 | H>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1473122 rs373709019 |
444 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773942709 CA1473123 |
445 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767041933 CA39730411 |
446 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767041933 CA1473125 COSM1742687 |
446 | A>V | biliary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs757588593 CA345382780 |
448 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs757588593 CA1473128 |
448 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1473126 rs764031568 |
448 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1473127 rs764031568 |
448 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1473129 rs774252565 |
450 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774252565 CA335027 |
450 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39730475 rs201875003 |
452 | A>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA345382869 rs566860712 |
453 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA237013 rs566860712 |
453 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA184958 rs727505063 RCV000156498 |
454 | H>P | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1346561214 CA345382882 |
454 | H>Y | No |
ClinGen gnomAD |
|
|
CA277844 rs769126818 COSM210467 |
457 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs769126818 CA39730495 |
457 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1473647 CA1473132 rs781559530 |
457 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs781559530 CA1473133 |
457 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA39730537 rs895000018 |
458 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
RCV000218361 rs876657742 CA10576394 |
461 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs376923220 CA133130 |
462 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376923220 CA345383077 |
462 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA39730565 rs950519789 |
463 | A>D | No |
ClinGen TOPMed |
|
|
CA1473136 rs760714286 |
464 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1473139 rs761640231 |
465 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA1473138 rs371434667 |
465 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761640231 CA1473140 |
465 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs767473165 CA39730633 |
469 | N>S | No |
ClinGen Ensembl |
|
|
RCV000036876 rs397516568 CA133133 |
471 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs763105764 CA345383727 |
472 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1307417080 CA345383713 |
472 | D>N | No |
ClinGen TOPMed |
|
|
rs763105764 CA1473160 |
472 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA39732967 rs957128342 |
473 | Y>C | No |
ClinGen TOPMed |
|
|
rs1246910938 CA345383768 |
474 | H>Y | No |
ClinGen gnomAD |
|
|
CA133135 rs80257412 |
475 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1320351 rs142943120 CA1473162 |
476 | A>S | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA238380 rs142943120 |
476 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753244692 CA1473163 |
478 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197619498 CA345383864 |
480 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1462221092 CA345383882 |
481 | D>E | No |
ClinGen gnomAD |
|
|
CA16042343 rs1057518451 RCV000412850 |
481 | D>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA345383884 rs199604590 |
482 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778023612 CA1473164 |
482 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237015 rs199604590 |
482 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345383893 rs1553303424 |
483 | C>S | No |
ClinGen Ensembl |
|
|
CA1473165 rs200529923 |
484 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs727504619 CA183708 RCV000155877 |
487 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553303427 CA345384000 |
488 | D>Y | No |
ClinGen Ensembl |
|
|
CA345384047 rs1572140129 |
490 | W>* | No |
ClinGen Ensembl |
|
|
CA1473166 rs779702876 |
492 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1257733614 CA345384127 |
494 | G>A | No |
ClinGen TOPMed |
|
|
rs200248944 CA345384135 |
495 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345384163 RCV000520210 rs1553303445 |
498 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA345384166 rs1408412558 |
498 | Q>R | No |
ClinGen gnomAD |
|
|
rs754497455 CA1473168 |
501 | R>V | No |
ClinGen ExAC |
|
|
rs1333550214 CA345384207 |
502 | E>K | No |
ClinGen gnomAD |
|
|
CA345384225 rs1572140190 |
503 | A>D | No |
ClinGen Ensembl |
|
|
CA39733011 rs1057460296 |
503 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1057460296 CA345384220 |
503 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA39733026 rs34193420 |
505 | E>* | No |
ClinGen Ensembl |
|
|
rs794728967 CA335029 |
506 | R>G | No |
ClinGen Ensembl |
|
|
CA345384604 rs1313640254 |
506 | R>K | No |
ClinGen gnomAD |
|
|
rs144553482 CA175229 |
507 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773143171 CA1473188 |
508 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA237017 rs786205346 |
511 | L>P | No |
ClinGen Ensembl |
|
|
rs749178520 CA1473189 |
513 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371954663 CA1473191 |
514 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770800165 CA1473190 |
514 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1487373186 CA345384703 |
515 | D>G | No |
ClinGen TOPMed |
|
|
CA345384704 rs1487373186 |
515 | D>V | No |
ClinGen TOPMed |
|
|
rs866517704 CA39737378 |
516 | Q>* | No |
ClinGen gnomAD |
|
|
rs1272875116 COSM533508 CA345384710 |
516 | Q>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA345384714 rs1272875116 |
516 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1473192 rs759778745 |
517 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473194 rs775555399 |
518 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs573836993 CA1473193 |
518 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345384765 rs1160416178 |
522 | A>D | No |
ClinGen gnomAD |
|
|
rs1455367143 CA345384762 |
522 | A>S | No |
ClinGen gnomAD |
|
|
RCV001192896 rs1455367143 CA345384760 |
522 | A>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs760753594 CA1473195 |
525 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA39737402 rs745651013 |
527 | P>S | No |
ClinGen Ensembl |
|
|
rs764072608 CA1473196 |
528 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA237019 rs200143657 |
529 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA345384832 rs1384783399 |
530 | N>S | No |
ClinGen gnomAD |
|
|
CA133143 rs397516570 RCV000036882 |
531 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1275318751 CA345384850 |
531 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA237021 rs200969588 |
532 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345384865 rs1198131959 |
532 | M>T | No |
ClinGen gnomAD |
|
|
CA1473197 rs765743650 |
533 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs376596726 CA1473198 |
534 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1060503685 CA16610063 |
534 | G>V | No |
ClinGen gnomAD |
|
|
CA1473200 rs780923255 |
535 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345384897 rs780923255 |
535 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752160615 CA1473201 |
535 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs777117450 CA345384913 |
536 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA345384911 rs755708114 |
536 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777117450 CA1473203 |
536 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs755708114 CA1473202 |
536 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401807611 CA345384923 |
537 | E>K | No |
ClinGen TOPMed |
|
|
CA345384974 rs1441734037 |
541 | D>Y | No |
ClinGen gnomAD |
|
|
CA345384992 COSM3360754 rs1193302872 |
542 | M>I | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA1473206 rs778713804 |
542 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778713804 CA39737459 |
542 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473205 rs770807444 |
542 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1439009491 CA345385013 |
544 | I>V | No |
ClinGen gnomAD |
|
|
CA345385056 RCV001311685 rs1265446111 COSM533507 |
547 | S>G | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
COSM1690002 rs149794430 CA1473208 |
549 | E>V | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1020931407 CA345385155 |
550 | E>D | No |
ClinGen Ensembl |
|
|
rs77436809 CA39737489 |
552 | Q>K | No |
ClinGen Ensembl |
|
|
rs778767257 RCV000518851 CA1473223 |
553 | S>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA345385670 rs1304039612 |
555 | I>V | No |
ClinGen gnomAD |
|
|
rs1377651033 CA345385677 |
556 | T>A | No |
ClinGen gnomAD |
|
|
CA345385686 rs1389785784 |
557 | A>G | No |
ClinGen TOPMed |
|
|
rs1389785784 CA345385687 |
557 | A>V | No |
ClinGen TOPMed |
|
|
CA39738820 rs1010818953 |
563 | A>T | No |
ClinGen Ensembl |
|
|
rs1430262023 CA345385730 |
563 | A>V | No |
ClinGen TOPMed |
|
|
rs876661341 CA10581130 |
564 | T>M | No |
ClinGen gnomAD |
|
|
CA345385739 rs546293678 |
565 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1473229 rs776805533 |
568 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473233 rs766898315 |
570 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs373132971 CA1473232 |
570 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1473234 rs141434302 |
572 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142142718 CA133148 |
572 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1572143338 CA345385840 |
574 | S>A | No |
ClinGen Ensembl |
|
|
rs756815410 CA335031 RCV000183263 |
575 | I>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs756815410 CA1473237 |
575 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572143357 CA345385872 |
576 | M>I | No |
ClinGen Ensembl |
|
|
CA345385863 rs764719024 |
576 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345385867 rs1572143354 RCV000852595 |
576 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA345385884 rs1237134427 |
577 | A>D | No |
ClinGen TOPMed |
|
|
CA345385891 rs1466035317 |
578 | I>F | No |
ClinGen gnomAD |
|
|
CA1473240 rs758313752 |
580 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs3738546 CA345385927 |
580 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1398504608 CA345385933 |
581 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1572143387 RCV000788539 CA345385956 |
582 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1572143387 CA345385958 |
582 | V>G | No |
ClinGen Ensembl |
|
|
CA345385948 rs1364836750 |
582 | V>M | No |
ClinGen TOPMed |
|
|
CA335033 rs200631005 |
583 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1301195756 CA345385962 |
583 | E>Q | No |
ClinGen TOPMed |
|
|
rs1572143414 CA345386000 |
585 | V>G | No |
ClinGen Ensembl |
|
|
rs1413539816 CA345386092 |
590 | N>S | No |
ClinGen TOPMed |
|
|
rs771302220 CA1473249 |
591 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377650301 CA1473248 |
591 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1473250 rs774780856 |
592 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs371143839 CA1473251 |
593 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1572143496 CA345386150 |
594 | S>G | No |
ClinGen Ensembl |
|
|
CA345386152 rs1224423212 |
594 | S>T | No |
ClinGen TOPMed |
|
|
rs921543442 CA39738955 |
595 | S>P | No |
ClinGen Ensembl |
|
|
CA39738960 rs934130648 |
596 | S>G | No |
ClinGen Ensembl |
|
|
rs1262131275 CA345386210 |
597 | N>H | No |
ClinGen gnomAD |
|
|
rs1553303871 RCV000623382 |
598 | P>missing | No |
ClinVar dbSNP |
|
|
rs767907022 CA1473253 |
598 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1473252 rs767907022 |
598 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA335035 rs794728968 |
600 | S>N | No |
ClinGen gnomAD |
|
|
rs1353062342 CA345386271 |
600 | S>R | No |
ClinGen TOPMed |
|
|
CA1473255 rs377356540 |
602 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1473257 COSM906081 rs751385957 |
604 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1473256 rs766165654 |
604 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_033487 rs35997569 CA133150 |
604 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1438508177 CA345386386 |
606 | E>Q | No |
ClinGen TOPMed |
|
|
rs754788103 CA1473258 |
607 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529944004 CA1473259 |
608 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs397516571 CA133152 |
608 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572143643 CA345386438 |
609 | T>N | No |
ClinGen Ensembl |
|
|
CA1473260 rs756354865 |
609 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1390442560 CA345386514 |
613 | K>Q | No |
ClinGen TOPMed |
|
|
rs1450696609 CA345386646 |
614 | V>A | No |
ClinGen gnomAD |
|
|
rs1239528264 CA345386652 |
615 | K>R | No |
ClinGen gnomAD |
|
|
rs1178612038 CA345386670 |
618 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs918678505 CA39740553 |
620 | I>N | No |
ClinGen TOPMed |
|
|
rs756407851 CA1473278 |
621 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473279 rs368040932 |
621 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757345394 CA1473280 |
622 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs138452803 CA133154 |
622 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1572145356 CA345386708 |
624 | S>P | No |
ClinGen Ensembl |
|
|
CA345386769 COSM1690003 rs868560793 |
628 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA39740591 rs868560793 |
628 | E>Q | No |
ClinGen gnomAD |
|
|
CA345386789 rs1338074315 |
630 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA345386797 rs1446087607 |
631 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs370908799 CA1473281 |
631 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370908799 CA345386799 |
631 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs727505112 CA185096 |
633 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA345386842 rs772586220 |
635 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1010571438 CA39740659 |
636 | E>G | No |
ClinGen Ensembl |
|
|
CA080487 rs780431842 |
636 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM679997 rs570051117 CA1473284 |
637 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1259556889 CA345386864 |
637 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1473285 rs769453411 |
640 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772909106 CA335037 |
640 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475464203 CA345386917 |
642 | F>S | No |
ClinGen TOPMed |
|
|
CA133160 rs146164600 |
644 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773889776 CA1473286 |
645 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA345387010 rs1196167380 |
648 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA345387011 rs1196167380 |
648 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs150825710 CA345387017 |
649 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1473288 rs150825710 |
649 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1473287 rs759422747 |
649 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173244523 CA345387023 |
650 | G>R | No |
ClinGen gnomAD |
|
|
rs1173244523 CA345387024 |
650 | G>R | No |
ClinGen gnomAD |
|
|
rs1416165135 CA345387042 |
651 | P>A | No |
ClinGen gnomAD |
|
|
rs752552408 CA39740736 |
651 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs752552408 CA1473289 |
651 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA39740752 rs955108317 |
652 | W>* | No |
ClinGen TOPMed |
|
|
CA345387058 rs1354629532 |
652 | W>C | No |
ClinGen gnomAD |
|
|
CA345387076 rs1400420274 |
653 | I>M | No |
ClinGen gnomAD |
|
|
CA1473290 rs549009790 |
654 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1473292 rs754150704 |
657 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA10587429 rs374135486 |
658 | E>Q | No |
ClinGen ESP gnomAD |
|
|
rs1313233193 CA345387390 |
659 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs768670466 CA1473322 |
660 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768670466 CA345387392 |
660 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM273861 rs1357678813 CA345387402 |
661 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA345387403 rs150021739 |
662 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764931229 CA335039 |
662 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1473324 COSM425672 rs150021739 |
662 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA345387421 rs1246018673 |
665 | I>V | No |
ClinGen gnomAD |
|
|
CA345387446 rs397516572 |
668 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133164 rs397516572 |
668 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345387455 rs1354513043 |
670 | A>P | No |
ClinGen gnomAD |
|
|
rs993980510 CA39741749 |
673 | D>E | No |
ClinGen gnomAD |
|
|
rs751590662 CA1473327 |
673 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs755479368 CA1473328 |
674 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1307645705 CA345387481 |
674 | Q>R | No |
ClinGen gnomAD |
|
|
CA39741771 rs531480370 |
675 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs549698133 CA39741774 |
679 | K>Q | No |
ClinGen gnomAD |
|
|
CA1473330 rs753129308 |
679 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756567639 CA1473331 |
680 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA345387552 rs1282906480 |
684 | N>D | No |
ClinGen gnomAD |
|
|
rs576783493 CA345387555 |
684 | N>I | No |
ClinGen 1000Genomes |
|
|
rs576783493 CA1473332 |
684 | N>S | No |
ClinGen 1000Genomes |
|
|
rs1057523250 CA16603610 |
685 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1175154245 CA345387559 |
685 | I>V | No |
ClinGen TOPMed |
|
|
rs534607483 CA16603538 RCV000436961 |
686 | I>L | No |
ClinGen ClinVar 1000Genomes dbSNP |
|
|
CA345387566 rs1238385804 |
686 | I>N | No |
ClinGen TOPMed |
|
|
rs534607483 CA39741779 |
686 | I>V | No |
ClinGen 1000Genomes |
|
|
CA345387575 rs1254873442 |
687 | N>K | No |
ClinGen gnomAD |
|
|
CA345387572 rs1198313014 |
687 | N>T | No |
ClinGen gnomAD |
|
|
CA175231 rs145248415 |
688 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs552938924 CA345387594 |
690 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552938924 CA1473337 |
690 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1473338 rs746456711 |
692 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1572146545 CA345387616 |
693 | D>G | No |
ClinGen Ensembl |
|
|
CA1473339 rs781251434 COSM77211 |
693 | D>N | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1473340 rs748034053 |
694 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225795874 CA345387635 |
696 | E>G | No |
ClinGen TOPMed |
|
|
rs772862873 CA1473342 |
697 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1302931594 CA345387650 |
698 | D>E | No |
ClinGen TOPMed |
|
|
rs1196855597 CA345387656 |
699 | H>R | No |
ClinGen gnomAD |
|
|
rs774427107 CA1473345 |
702 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs771101849 CA1473344 COSM906084 |
702 | I>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA345387679 rs1376989649 |
703 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1473346 rs370862426 |
703 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199535709 CA1473350 |
710 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs764538888 CA1473351 |
713 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345387758 rs1305089793 |
714 | N>Y | No |
ClinGen gnomAD |
|
|
rs1353997401 CA345387766 |
715 | Y>C | No |
ClinGen gnomAD |
|
|
CA39741949 rs142922067 |
715 | Y>H | No |
ClinGen ESP TOPMed |
|
|
CA133173 rs193922635 COSM906085 |
716 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA39741950 rs193922635 |
716 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149433837 CA335041 |
721 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1473368 rs546431200 |
721 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345388607 rs546431200 |
721 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149433837 CA181031 |
721 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1473369 rs372608387 |
722 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA39743728 rs906925808 |
723 | G>E | No |
ClinGen Ensembl |
|
|
CA1473370 rs767078596 |
727 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777744290 CA345388746 |
732 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA335043 rs777744290 COSM906087 |
732 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs749218263 CA1473373 |
734 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10610587 rs886046207 COSM1690005 |
734 | T>I | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs749218263 CA345388778 |
734 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA345388819 rs1350703409 |
736 | N>S | No |
ClinGen gnomAD |
|
|
CA16603539 rs982200490 |
737 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs200553726 CA1473376 |
737 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1473375 rs778656550 |
737 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs775639863 CA1473378 |
738 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs746999787 CA1473379 |
741 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473380 rs768771539 |
742 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs376982788 CA1473381 |
742 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345388909 rs1221879397 |
742 | I>T | No |
ClinGen gnomAD |
|
|
rs765747662 CA1473383 COSM906088 |
744 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1457274909 CA345388945 |
745 | R>T | No |
ClinGen gnomAD |
|
|
rs112615744 CA39743845 |
746 | D>G | No |
ClinGen Ensembl |
|
|
CA16610065 rs1060503686 |
747 | A>V | No |
ClinGen TOPMed |
|
|
CA345389001 rs1469006040 |
748 | K>R | No |
ClinGen gnomAD |
|
|
CA1473386 rs140836849 |
751 | T>I | No |
ClinGen ESP ExAC TOPMed |
|
|
CA345389067 rs1264513518 |
752 | Q>R | No |
ClinGen TOPMed |
|
|
CA345389096 rs1242111267 |
754 | Q>P | No |
ClinGen TOPMed |
|
|
rs755645612 CA1473387 |
755 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1558250406 CA345389199 |
758 | F>L | No |
ClinGen Ensembl |
|
|
rs753820950 CA1473389 |
759 | R>S | No |
ClinGen ExAC |
|
|
rs757134452 CA1473390 |
760 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA345389232 rs1572149075 |
760 | A>V | No |
ClinGen Ensembl |
|
|
CA39743901 rs1042163163 |
761 | S>T | No |
ClinGen TOPMed |
|
|
CA345389276 rs1163027451 |
762 | F>L | No |
ClinGen gnomAD |
|
|
RCV000498845 rs745579917 CA345389301 |
763 | N>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs745579917 CA1473392 |
763 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1473391 rs778708046 |
763 | N>S | No |
ClinGen ExAC |
|
|
CA133175 rs397516573 RCV000036897 |
769 | K>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1218860066 CA345390094 |
770 | N>K | No |
ClinGen gnomAD |
|
|
CA345390090 rs1354437013 |
770 | N>S | No |
ClinGen gnomAD |
|
|
rs147616930 CA1473410 |
775 | H>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs370677725 CA133177 |
775 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365953928 CA345390204 |
778 | F>I | No |
ClinGen gnomAD |
|
|
rs1486913513 CA345390223 |
779 | R>G | No |
ClinGen gnomAD |
|
|
RCV000788374 CA1473411 rs779870295 |
779 | R>K | No |
ClinGen ClinVar ExAC dbSNP |
|
|
rs1229319676 CA345390305 |
783 | I>S | No |
ClinGen TOPMed |
|
|
rs751781809 CA1473412 |
785 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA39745565 rs1012982310 |
786 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1196099296 CA345390397 |
788 | D>H | No |
ClinGen gnomAD |
|
|
CA345390568 rs1241649558 |
790 | G>S | No |
ClinGen gnomAD |
|
|
CA345390609 rs1254278526 |
792 | A>T | No |
ClinGen TOPMed |
|
|
rs145450474 CA335045 COSM1560172 |
793 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
|
rs397516574 CA133180 |
796 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473436 rs772409484 |
796 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772409484 CA077594 |
796 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39746460 rs979021703 |
797 | I>V | No |
ClinGen Ensembl |
|
|
CA345390684 rs1339973900 |
798 | M>V | No |
ClinGen TOPMed |
|
|
CA345390696 rs1572151886 |
799 | T>N | No |
ClinGen Ensembl |
|
|
CA345390704 rs1467172731 |
800 | L>P | No |
ClinGen gnomAD |
|
|
rs776329264 CA1473437 |
804 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs769239899 CA1473439 |
805 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39746504 rs769239899 |
805 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237023 rs200282066 RCV000171867 |
807 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1473441 rs148833906 |
808 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345390781 rs1572151947 |
808 | T>P | No |
ClinGen Ensembl |
|
|
CA1473442 rs148833906 |
808 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1473444 rs551605384 |
809 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345390801 rs1572151968 |
810 | T>P | No |
ClinGen Ensembl |
|
|
CA1473447 rs146445537 |
812 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA39746571 rs762914906 |
813 | S>F | No |
ClinGen Ensembl |
|
|
rs1553305106 CA345390830 RCV000519793 |
813 | S>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM906089 CA16603599 rs1057522840 |
816 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs757713931 CA1473448 |
817 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779528747 CA1473449 |
818 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA345391377 rs1572152018 COSM268248 |
822 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs12072499 CA39746633 |
823 | A>V | No |
ClinGen Ensembl |
|
|
CA345391418 rs1572152053 |
825 | T>P | No |
ClinGen Ensembl |
|
|
rs1213162184 CA345391444 |
826 | D>N | No |
ClinGen gnomAD |
|
|
CA39746643 rs372348405 |
826 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs747824606 CA1473453 |
827 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA16603542 rs1057524767 RCV000436152 |
827 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1473454 rs769451897 |
828 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1473455 rs772603249 |
828 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs770335717 COSM318496 CA345391526 |
829 | E>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs774497946 CA1473458 |
829 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs770335717 CA1473457 |
829 | E>K | No |
ClinGen ExAC |
|
|
CA1473459 rs145087599 |
830 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1572152111 CA345391572 |
831 | V>G | No |
ClinGen Ensembl |
|
|
CA1473460 rs767441575 |
832 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1340383 rs200854335 CA237025 |
833 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA345391707 rs1396356742 |
835 | F>L | No |
ClinGen gnomAD |
|
|
rs727502887 CA345391716 |
836 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs200357413 CA39746764 |
839 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs794728969 RCV000183280 |
841 | D>missing | No |
ClinVar dbSNP |
|
|
rs766813897 CA1473485 |
843 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs766813897 CA1473484 |
843 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA345392031 rs1434516566 |
843 | P>T | No |
ClinGen gnomAD |
|
|
CA345392048 rs1558252775 |
844 | Y>H | No |
ClinGen Ensembl |
|
|
CA345392056 rs1475638470 |
845 | I>V | No |
ClinGen gnomAD |
|
|
CA345392080 rs370569935 |
847 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1064796605 CA16617092 RCV000482951 |
847 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs370569935 CA1473487 |
847 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1639758 rs141563497 CA1473489 |
851 | R>C | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201335965 CA237027 COSM210469 |
851 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA175238 rs727502888 COSM425676 |
852 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1473490 rs745317077 COSM236676 |
852 | R>W | lung prostate haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs746887157 CA1473492 |
855 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA335047 rs375588211 |
856 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345392184 rs1359577957 |
857 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA337539 rs533267299 |
857 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473493 rs769940120 |
858 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345392221 rs773297054 |
859 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1473494 rs773297054 |
859 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs763078071 CA335049 RCV000223773 RCV000183277 |
860 | Q>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs763078071 CA1473495 |
860 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1473496 rs766443304 |
860 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA39748222 rs867675863 |
862 | C>Y | No |
ClinGen Ensembl |
|
|
CA1473497 rs397516577 |
863 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752937110 CA1473499 |
865 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212130923 CA345392350 |
866 | M>I | No |
ClinGen TOPMed |
|
|
rs1395445136 CA345392336 |
866 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345392331 rs1395445136 |
866 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345392369 rs1558252869 |
867 | P>L | No |
ClinGen Ensembl |
|
|
CA345392370 rs143150260 |
868 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM906090 CA1473501 rs143150260 |
868 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs867130343 CA39748272 |
868 | A>V | No |
ClinGen Ensembl |
|
|
rs368754823 CA1473502 |
870 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA335056 RCV000183282 rs370341149 |
871 | G>V | No |
ClinGen ClinVar ESP TOPMed dbSNP |
|
|
rs779407684 CA345392431 |
872 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1473504 rs746991314 |
872 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779407684 CA1473503 |
872 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1267133428 CA345392449 |
873 | G>R | No |
ClinGen gnomAD |
|
|
CA345392454 rs1214226542 |
873 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA345392472 rs1285035538 |
874 | S>I | No |
ClinGen gnomAD |
|
|
rs1324890985 CA345392503 |
876 | P>S | No |
ClinGen TOPMed |
|
|
CA1473505 rs754834889 |
877 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345392527 rs754834889 |
877 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39748307 rs963795768 |
877 | G>V | No |
ClinGen Ensembl |
|
|
rs1553305291 RCV000478534 |
878 | A>missing | No |
ClinVar dbSNP |
|
|
CA345392542 rs1270659015 |
878 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs143957325 CA39748323 |
880 | D>A | No |
ClinGen ESP |
|
|
CA345392601 rs747843638 |
882 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA335000 rs747843638 COSM1181731 |
882 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1473506 rs769564893 |
883 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176935092 CA345392615 |
884 | F>L | No |
ClinGen gnomAD |
|
|
CA338853 rs863224691 |
885 | S>P | No |
ClinGen Ensembl |
|
|
CA1473507 rs371271055 |
886 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148972050 CA345392668 |
887 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA237029 rs148972050 COSM3789686 |
887 | A>T | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs536297856 CA1473512 |
890 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1177830945 CA345392702 |
891 | E>* | No |
ClinGen gnomAD |
|
|
CA335051 rs199920384 |
893 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1473513 rs142646143 |
893 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1473514 rs142646143 COSM533499 |
893 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1572153636 CA345392721 |
894 | L>M | No |
ClinGen Ensembl |
No associated diseases with P35609
8 regional properties for P35609
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | AGC-kinase, C-terminal | 357 - 425 | IPR000961 |
| domain | Pleckstrin homology domain | 1150 - 1351 | IPR001849 |
| active_site | Serine/threonine-protein kinase, active site | 210 - 222 | IPR008271 |
| domain | HR1 rho-binding domain | 497 - 573 | IPR011072 |
| domain | ROCK, Rho binding domain | 978 - 1047 | IPR015008 |
| binding_site | Protein kinase, ATP binding site | 98 - 121 | IPR017441 |
| domain | Rho-associated protein kinase 2, catalytic domain | 39 - 417 | IPR029878 |
| domain | Rho-associated protein kinase 2, HR1 domain | 505 - 571 | IPR037311 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11915 | SPECTRIN/FILAMIN RELATED CYTOSKELETAL PROTEIN |
| PANTHER Subfamily | PTHR11915:SF429 | ALPHA-ACTININ-2 |
| PANTHER Protein Class |
cytoskeletal protein
actin or actin-binding cytoskeletal protein |
|
| PANTHER Pathway Category |
Integrin signalling pathway alpha actinin |
|
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin filament | A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. |
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cortical actin cytoskeleton | The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| filopodium | Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| platelet alpha granule lumen | The volume enclosed by the membrane of the platelet alpha granule. |
| pseudopodium | A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
14 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| cytoskeletal protein binding | Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton). |
| FATZ binding | Binding to a member of the FATZ family of proteins, filamin-, actinin-, and telethonin-binding proteins of the Z-disc of striated muscle. FATZ proteins are located in the Z-disc of the sarcomere and are involved in a complex network of interactions with other Z-band components. |
| identical protein binding | Binding to an identical protein or proteins. |
| integrin binding | Binding to an integrin. |
| LIM domain binding | Binding to a LIM domain (for Lin-11 Isl-1 Mec-3) of a protein, a domain with seven conserved cysteine residues and a histidine, that binds two zinc ions and acts as an interface for protein-protein interactions. |
| nuclear receptor coactivator activity | A transcription coactivator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound nuclear receptor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| phosphatidylinositol-4,5-bisphosphate binding | Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| structural constituent of muscle | The action of a molecule that contributes to the structural integrity of a muscle fiber. |
| titin binding | Binding to titin, any of a family of giant proteins found in striated and smooth muscle. In striated muscle, single titin molecules span half the sarcomere, with their N- and C-termini in the Z-disc and M-line, respectively. |
| titin Z domain binding | Binding to a titin Z protein domain, which recognizes and binds to the C-terminal calmodulin-like domain of alpha-actinin-2 (Act-EF34), adopts a helical structure, and binds in a groove formed by the two planes between the helix pairs of Act-EF34. |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| actin filament uncapping | The removal of capping protein from the end of actin filaments to free the ends for addition, exchange or removal of further actin subunits. |
| cardiac muscle cell development | The process whose specific outcome is the progression of a cardiac muscle cell over time, from its formation to the mature state. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| focal adhesion assembly | The aggregation and bonding together of a set of components to form a focal adhesion, a complex of intracellular signaling and structural proteins that provides a structural link between the internal actin cytoskeleton and the ECM, and also function as a locus of signal transduction activity. |
| microspike assembly | Formation of a microspike, a dynamic, actin-rich projection extending from the surface of a migrating animal cell. |
| muscle cell development | The process whose specific outcome is the progression of a muscle cell over time, from its formation to the mature structure. Muscle cell development does not include the steps involved in committing an unspecified cell to the muscle cell fate. |
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| negative regulation of potassium ion transmembrane transporter activity | Any process that stops, prevents or reduces the frequency, rate or extent of potassium ion transmembrane transporter activity. |
| negative regulation of potassium ion transport | Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| negative regulation of protein localization to cell surface | Any process that stops, prevents, or reduces the frequency, rate or extent of protein localization to the cell surface. |
| phospholipase C-activating angiotensin-activated signaling pathway | A phospholipase C-activating G protein-coupled receptor signaling pathway initiated by angiotensin binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| positive regulation of cation channel activity | Any process that activates or increases the frequency, rate or extent of cation channel activity. |
| positive regulation of endocytic recycling | Any process that activates or increases the frequency, rate or extent of endocytic recycling. |
| positive regulation of potassium ion transmembrane transporter activity | Any process that activates or increases the frequency, rate or extent of potassium ion transmembrane transporter activity. |
| positive regulation of potassium ion transport | Any process that activates or increases the frequency, rate or extent of the directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| regulation of membrane potential | Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| sarcomere organization | The myofibril assembly process that results in the organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A5D7D1 | ACTN4 | Alpha-actinin-4 | Bos taurus (Bovine) | SS |
| Q0III9 | ACTN3 | Alpha-actinin-3 | Bos taurus (Bovine) | SS |
| Q3B7N2 | ACTN1 | Alpha-actinin-1 | Bos taurus (Bovine) | SS |
| Q3ZC55 | ACTN2 | Alpha-actinin-2 | Bos taurus (Bovine) | SS |
| Q90734 | ACTN4 | Alpha-actinin-4 | Gallus gallus (Chicken) | SS |
| P05094 | ACTN1 | Alpha-actinin-1 | Gallus gallus (Chicken) | SS |
| P20111 | ACTN2 | Alpha-actinin-2 | Gallus gallus (Chicken) | SS |
| P18091 | Actn | Alpha-actinin, sarcomeric | Drosophila melanogaster (Fruit fly) | SS |
| O15020 | SPTBN2 | Spectrin beta chain, non-erythrocytic 2 | Homo sapiens (Human) | PR |
| P11277 | SPTB | Spectrin beta chain, erythrocytic | Homo sapiens (Human) | PR |
| Q01082 | SPTBN1 | Spectrin beta chain, non-erythrocytic 1 | Homo sapiens (Human) | PR |
| Q08043 | ACTN3 | Alpha-actinin-3 | Homo sapiens (Human) | SS |
| O43707 | ACTN4 | Alpha-actinin-4 | Homo sapiens (Human) | SS |
| P12814 | ACTN1 | Alpha-actinin-1 | Homo sapiens (Human) | SS |
| O88990 | Actn3 | Alpha-actinin-3 | Mus musculus (Mouse) | SS |
| P57780 | Actn4 | Alpha-actinin-4 | Mus musculus (Mouse) | SS |
| Q7TPR4 | Actn1 | Alpha-actinin-1 | Mus musculus (Mouse) | SS |
| Q9JI91 | Actn2 | Alpha-actinin-2 | Mus musculus (Mouse) | SS |
| Q9Z1P2 | Actn1 | Alpha-actinin-1 | Rattus norvegicus (Rat) | SS |
| Q9QXQ0 | Actn4 | Alpha-actinin-4 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNQIEPGVQY | NYVYDEDEYM | IQEEEWDRDL | LLDPAWEKQQ | RKTFTAWCNS | HLRKAGTQIE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NIEEDFRNGL | KLMLLLEVIS | GERLPKPDRG | KMRFHKIANV | NKALDYIASK | GVKLVSIGAE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EIVDGNVKMT | LGMIWTIILR | FAIQDISVEE | TSAKEGLLLW | CQRKTAPYRN | VNIQNFHTSW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KDGLGLCALI | HRHRPDLIDY | SKLNKDDPIG | NINLAMEIAE | KHLDIPKMLD | AEDIVNTPKP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DERAIMTYVS | CFYHAFAGAE | QAETAANRIC | KVLAVNQENE | RLMEEYERLA | SELLEWIRRT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IPWLENRTPE | KTMQAMQKKL | EDFRDYRRKH | KPPKVQEKCQ | LEINFNTLQT | KLRISNRPAF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MPSEGKMVSD | IAGAWQRLEQ | AEKGYEEWLL | NEIRRLERLE | HLAEKFRQKA | STHETWAYGK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EQILLQKDYE | SASLTEVRAL | LRKHEAFESD | LAAHQDRVEQ | IAAIAQELNE | LDYHDAVNVN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DRCQKICDQW | DRLGTLTQKR | REALERMEKL | LETIDQLHLE | FAKRAAPFNN | WMEGAMEDLQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DMFIVHSIEE | IQSLITAHEQ | FKATLPEADG | ERQSIMAIQN | EVEKVIQSYN | IRISSSNPYS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TVTMDELRTK | WDKVKQLVPI | RDQSLQEELA | RQHANERLRR | QFAAQANAIG | PWIQNKMEEI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ARSSIQITGA | LEDQMNQLKQ | YEHNIINYKN | NIDKLEGDHQ | LIQEALVFDN | KHTNYTMEHI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RVGWELLLTT | IARTINEVET | QILTRDAKGI | TQEQMNEFRA | SFNHFDRRKN | GLMDHEDFRA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| CLISMGYDLG | EAEFARIMTL | VDPNGQGTVT | FQSFIDFMTR | ETADTDTAEQ | VIASFRILAS |
| 850 | 860 | 870 | 880 | 890 | |
| DKPYILAEEL | RRELPPDQAQ | YCIKRMPAYS | GPGSVPGALD | YAAFSSALYG | ESDL |