P78352
SS
Gene name |
DLG4 (PSD95) |
Protein name |
Disks large homolog 4 |
Names |
Postsynaptic density protein 95 , PSD-95 , Synapse-associated protein 90 , SAP-90 , SAP90 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1742 |
EC number |
|
Protein Class |
|
Descriptions
Dlg1 is a member of the membrane-associated guanylate kinase (MAGUK) family of PDZ domain-containing proteins and regulates surface expression of NMDA receptors. PDZ domain adjacent to SH3 and SH3 domain interacts with GK domain for autoinhibition.
Autoinhibitory domains (AIDs)
Target domain |
514-702 (GK domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Target domain |
514-702 (GK domain) |
Relief mechanism |
Partner binding, Others |
Assay |
|
Accessory elements
No accessory elements
References
- Qian Y et al. (2006) "Interdomain interactions in the tumor suppressor discs large regulate binding to the synaptic protein GukHolder", The Journal of biological chemistry, 281, 35757-63
- McGee AW et al. (1999) "Identification of an intramolecular interaction between the SH3 and guanylate kinase domains of PSD-95", The Journal of biological chemistry, 274, 17431-6
- Brenman JE et al. (1998) "Localization of postsynaptic density-93 to dendritic microtubules and interaction with microtubule-associated protein 1A", The Journal of neuroscience : the official journal of the Society for Neuroscience, 18, 8805-13
Autoinhibited structure
Activated structure
23 structures for P78352
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1KEF | NMR | - | A | 62-154 | PDB |
| 2MES | NMR | - | B | 1-71 | PDB |
| 3I4W | X-ray | 135 A | A/B/C/D | 302-403 | PDB |
| 3K82 | X-ray | 140 A | A | 305-402 | PDB |
| 3ZRT | X-ray | 340 A | A/B/C/D | 61-249 | PDB |
| 5J7J | NMR | - | B | 1-19 | PDB |
| 5JXB | X-ray | 290 A | A/C | 309-413 | PDB |
| 6QJD | X-ray | 155 A | A/B/C/D | 302-393 | PDB |
| 6QJF | X-ray | 150 A | A/B/C/D | 302-403 | PDB |
| 6QJG | X-ray | 200 A | A/B/C/D | 302-403 | PDB |
| 6QJI | X-ray | 150 A | A/B/C/D/E/F | 305-403 | PDB |
| 6QJJ | X-ray | 170 A | A | 305-403 | PDB |
| 6QJK | X-ray | 105 A | A | 305-402 | PDB |
| 6QJL | X-ray | 104 A | A/B | 302-403 | PDB |
| 6QJN | X-ray | 180 A | A/B | 302-403 | PDB |
| 6SPV | X-ray | 204 A | A | 55-249 | PDB |
| 6SPZ | X-ray | 208 A | A | 55-249 | PDB |
| 8AH4 | X-ray | 148 A | A/B/C/D/E/F | 302-403 | PDB |
| 8AH5 | X-ray | 125 A | A | 302-403 | PDB |
| 8AH6 | X-ray | 163 A | A/B | 302-403 | PDB |
| 8AH7 | X-ray | 125 A | A | 302-403 | PDB |
| 8AH8 | X-ray | 150 A | A | 302-403 | PDB |
| AF-P78352-F1 | Predicted | AlphaFoldDB |
497 variants for P78352
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA357917 RCV000210399 RCV001004848 rs869312859 |
50 | Y>missing | Intellectual developmental disorder 62 Cerebral visual impairment and intellectual disability [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001800186 RCV002541336 rs2142888007 |
65 | E>* | Inborn genetic diseases Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2142886687 RCV001800188 |
73 | S>* | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001800189 rs2142886600 |
82 | G>missing | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2142886433 RCV001800190 |
107 | Q>* | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001799717 RCV001008392 rs1597472411 |
109 | G>missing | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2142885916 RCV001800191 |
114 | N>missing | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002273148 rs2142885592 |
137 | L>missing | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2142885279 RCV001800192 |
160 | E>* | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001799716 rs1597471063 RCV001008151 |
176 | G>missing | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2142884433 RCV001754561 |
177 | G>V | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001800194 rs2142884288 |
186 | D>V | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001800195 rs1326420629 |
198 | G>S | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
CA16620595 RCV000487154 RCV001799667 rs1064795686 |
202 | K>missing | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002266821 rs200396689 |
247 | S>N | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2069827755 RCV001800197 |
264 | Y>* | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001004850 RCV001171614 RCV003396590 rs1182894684 |
309 | R>* | DLG4-related condition Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001252474 rs766960060 |
309 | R>Q | Intellectual disability Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_083773 | 309 | R>del | MRD62 [UniProt] | Yes | UniProt |
|
RCV001800198 rs2142845915 |
332 | D>G | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000850478 RCV001004852 rs1597453595 |
340 | F>missing | Marfanoid habitus and intellectual disability Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2142845390 RCV001732534 RCV003163811 |
358 | Q>* | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001004849 RCV003329358 rs1597452702 |
368 | R>* | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| VAR_083774 | 368 | R>del | MRD62 [UniProt] | Yes | UniProt |
|
rs2069779430 RCV001800200 |
399 | R>* | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs2069778929 RCV001172111 RCV001799738 |
401 | E>* | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001252472 RCV003399028 rs1207600580 |
455 | R>C | DLG4-related condition Intellectual disability [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002274209 RCV003320253 rs2142830996 |
471 | W>* | Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs773473959 RCV001252473 |
474 | R>Q | Intellectual disability [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001268465 RCV001799756 rs2069660959 |
479 | D>* | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2142830670 RCV001800201 |
487 | F>missing | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001780935 RCV003163924 rs2142828228 |
496 | R>* | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1567528092 RCV000760337 RCV001775149 |
497 | R>* | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1160688414 RCV001800206 |
499 | W>* | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2142828170 RCV001800205 |
499 | W>* | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs778104648 RCV001799753 RCV001266082 |
516 | R>* | Inborn genetic diseases Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2142825745 RCV002274485 |
536 | P>L | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001800208 rs2142825224 |
558 | K>* | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2142822298 RCV002274423 RCV003164398 |
566 | T>missing | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001291797 rs2069587140 COSM1203714 |
571 | R>W | large_intestine Intellectual developmental disorder 62 [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar Ensembl dbSNP |
|
rs1597442444 RCV000850477 RCV001004851 |
572 | E>missing | Marfanoid habitus and intellectual disability Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001800210 rs2142821925 |
586 | R>Q | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2142821651 RCV001800211 |
611 | T>I | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs767384318 RCV001785365 |
617 | R>* | Variant assessed as Somatic; HIGH impact. Intellectual developmental disorder 62 [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2142821587 RCV001800213 |
619 | V>missing | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1451196379 RCV001800214 |
626 | C>* | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs752934560 RCV001563644 |
654 | S>F | DLG4-related synaptopathy [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001800215 rs2142803273 |
692 | V>missing | Intellectual developmental disorder 62 [ClinVar] | Yes |
ClinVar dbSNP |
| rs1401805036 | 3 | C>S | No | gnomAD | |
| rs2070954028 | 7 | V>L | No |
TOPMed gnomAD |
|
| rs2070567513 | 13 | R>C | No | Ensembl | |
| rs767412117 | 14 | Y>S | No |
ExAC TOPMed gnomAD |
|
| rs763066158 | 18 | D>A | No |
ExAC TOPMed gnomAD |
|
| rs763066158 | 18 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs750562912 | 19 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs2070566957 | 21 | P>S | No | TOPMed | |
|
COSM473292 COSM1135987 |
24 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2070566580 | 25 | S>T | No | TOPMed | |
| rs1230103178 | 31 | N>S | No |
TOPMed gnomAD |
|
| rs2070334573 | 33 | A>D | No | Ensembl | |
| rs768555832 | 33 | A>S | No |
ExAC gnomAD |
|
| rs746846985 | 34 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs2070334076 | 35 | S>F | No | Ensembl | |
| rs757521934 | 36 | P>A | No | Ensembl | |
| rs758437498 | 37 | P>A | No |
ExAC gnomAD |
|
| rs758437498 | 37 | P>S | No |
ExAC gnomAD |
|
| rs758437498 | 37 | P>T | No |
ExAC gnomAD |
|
| rs1425387906 | 39 | I>T | No |
TOPMed gnomAD |
|
| rs1457784229 | 39 | I>V | No |
TOPMed gnomAD |
|
| rs2070332539 | 40 | V>I | No | TOPMed | |
| rs2142889058 | 43 | D>N | No | Ensembl | |
|
COSM983800 COSM1589129 |
43 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1161910829 | 44 | T>I | No | gnomAD | |
|
COSM983798 COSM1589130 |
46 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756296025 | 49 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs754400138 | 50 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs1567542317 | 52 | L>F | No | Ensembl | |
| rs1597473660 | 54 | V>G | No | Ensembl | |
| rs1287207876 | 54 | V>M | No |
TOPMed gnomAD |
|
| rs377743557 | 55 | N>K | No |
ESP TOPMed gnomAD |
|
|
COSM1589131 COSM983796 |
56 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200154740 | 57 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs745800686 | 58 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1482807963 | 58 | E>K | No | TOPMed | |
| rs1253688873 | 59 | G>E | No |
TOPMed gnomAD |
|
| rs1451040768 | 60 | E>D | No |
TOPMed gnomAD |
|
| rs1304712290 | 61 | M>T | No | gnomAD | |
| TCGA novel | 64 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001311107 rs2070316114 |
65 | E>missing | No |
ClinVar dbSNP |
|
|
rs2142888003 RCV001760877 |
67 | T>I | No |
ClinVar Ensembl dbSNP |
|
| rs12452520 | 81 | G>S | No | Ensembl | |
| rs753336687 | 86 | P>T | No |
ExAC TOPMed gnomAD |
|
|
rs868786374 COSM274796 |
89 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
| rs755756114 | 90 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1597472480 | 91 | D>A | No | Ensembl | |
|
COSM983792 COSM1589133 |
91 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3521571 COSM3521570 |
92 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3521568 COSM3521569 |
93 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1387663370 | 95 | F>I | No | gnomAD | |
|
COSM1385895 COSM1385896 |
98 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1385894 COSM1385893 |
104 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767252131 | 107 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs754682597 | 115 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs751255727 | 116 | S>N | No |
ExAC gnomAD |
|
| rs2070279366 | 123 | V>M | No | Ensembl | |
| rs571720664 | 125 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs571720664 | 125 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1453612541 | 126 | R>C | No | gnomAD | |
| rs760702915 | 126 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs928035071 | 127 | E>K | No | gnomAD | |
| rs772124078 | 132 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs982251458 | 133 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs749722834 | 134 | V>G | No |
ExAC gnomAD |
|
| TCGA novel | 135 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778396489 | 136 | A>T | No |
ExAC gnomAD |
|
|
rs2142885581 RCV001962979 |
138 | K>missing | No |
ClinVar dbSNP |
|
| rs770457221 | 142 | S>A | No |
ExAC gnomAD |
|
| rs200429432 | 144 | V>I | No |
1000Genomes ExAC gnomAD |
|
| rs1334906542 | 145 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2070273147 | 146 | L>P | No | Ensembl | |
|
TCGA novel rs2070272854 |
147 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1373830825 | 148 | V>I | No | gnomAD | |
| rs754521971 | 150 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs754521971 | 150 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1428213359 | 151 | R>Q | No | Ensembl | |
| rs1281272482 | 153 | P>S | No | TOPMed | |
| rs779621148 | 154 | P>L | No |
ExAC TOPMed gnomAD |
|
|
rs2142885359 RCV001797458 |
155 | A>V | No |
ClinVar Ensembl dbSNP |
|
| rs2142885342 | 157 | K>N | No | Ensembl | |
| rs1484512483 | 158 | V>F | No | TOPMed | |
| rs1484512483 | 158 | V>I | No | TOPMed | |
| rs1484512483 | 158 | V>L | No | TOPMed | |
| rs1468527368 | 159 | M>T | No | gnomAD | |
| rs750247768 | 160 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs2070270144 | 161 | I>L | No | TOPMed | |
| TCGA novel | 162 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2142884582 | 169 | G>A | No | Ensembl | |
| TCGA novel | 169 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 169 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs370979313 | 170 | L>F | No |
ESP gnomAD |
|
| rs370979313 | 170 | L>I | No |
ESP gnomAD |
|
| rs2142884544 | 170 | L>P | No | Ensembl | |
| rs2070259040 | 172 | F>V | No | TOPMed | |
| rs1179126590 | 175 | A>S | No |
TOPMed gnomAD |
|
| COSM274795 | 175 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs758066384 | 176 | G>R | No |
ExAC gnomAD |
|
| rs778679470 | 178 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs778679470 | 178 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2142884358 | 183 | I>L | No | Ensembl | |
| rs1567540969 | 183 | I>M | No | Ensembl | |
| rs2142884331 | 184 | P>S | No | Ensembl | |
| rs759632708 | 185 | G>R | No | ExAC | |
| rs2070254480 | 187 | N>S | No |
TOPMed gnomAD |
|
| TCGA novel | 188 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2070253586 | 190 | Y>C | No | gnomAD | |
| rs1567540933 | 192 | T>R | No | Ensembl | |
| rs2070252417 | 196 | E>D | No |
TOPMed gnomAD |
|
|
COSM3521564 COSM3521565 |
196 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1344403587 | 197 | G>A | No |
TOPMed gnomAD |
|
|
COSM3521562 COSM3521563 rs1344403587 |
197 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs1326420629 | 198 | G>R | No | gnomAD | |
| rs1415656754 | 199 | A>T | No | gnomAD | |
| rs2070250302 | 202 | K>R | No | TOPMed | |
| rs2070249996 | 203 | D>E | No | gnomAD | |
| rs763284124 | 205 | R>K | No |
ExAC gnomAD |
|
| rs1184425958 | 208 | I>T | No | gnomAD | |
| rs1567540825 | 208 | I>V | No | Ensembl | |
| TCGA novel | 211 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2070248818 | 212 | I>F | No | gnomAD | |
| rs773645233 | 214 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs773645233 | 214 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs758618486 | 217 | S>C | No |
ExAC gnomAD |
|
| rs2070232129 | 222 | D>G | No | Ensembl | |
|
RCV001814831 rs2142882473 |
223 | V>I | No |
ClinVar Ensembl dbSNP |
|
| rs776880517 | 224 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs2070231341 | 225 | H>Y | No | TOPMed | |
| rs1336324700 | 229 | V>M | No | gnomAD | |
| rs1236171080 | 230 | A>S | No | gnomAD | |
| rs1470435082 | 230 | A>V | No | gnomAD | |
| rs2070229323 | 231 | A>V | No | TOPMed | |
| TCGA novel | 234 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1300430397 | 235 | T>M | No | gnomAD | |
| rs2142882300 | 236 | Y>C | No | Ensembl | |
| rs1375525991 | 238 | V>I | No | gnomAD | |
| rs2070227600 | 240 | Y>H | No | gnomAD | |
| rs1428590876 | 241 | L>V | No |
TOPMed gnomAD |
|
| rs773965760 | 244 | A>S | No |
ExAC gnomAD |
|
| rs2070226341 | 246 | P>L | No | TOPMed | |
| rs770523694 | 248 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs372875921 | 249 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs777444076 | 252 | S>C | No |
ExAC gnomAD |
|
| rs2070224721 | 254 | S>N | No | TOPMed | |
| rs770575217 | 255 | Y>C | No | Ensembl | |
| rs751164663 | 256 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs751164663 | 256 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1176658993 | 257 | P>A | No | gnomAD | |
| rs1260811393 | 258 | P>Q | No |
TOPMed gnomAD |
|
| TCGA novel | 259 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs200981137 | 260 | I>V | No |
1000Genomes ExAC gnomAD |
|
| rs368606372 | 262 | T>A | No |
ESP ExAC gnomAD |
|
| rs542553103 | 262 | T>N | No |
1000Genomes ExAC gnomAD |
|
| rs368606372 | 262 | T>P | No |
ESP ExAC gnomAD |
|
| rs1597454287 | 267 | H>P | No | Ensembl | |
| rs2142846854 | 270 | N>K | No | Ensembl | |
| rs1411036494 | 272 | I>L | No |
TOPMed gnomAD |
|
| rs1460647838 | 273 | S>R | No | gnomAD | |
| rs2069826721 | 273 | S>T | No | TOPMed | |
| rs1389837875 | 276 | S>G | No | gnomAD | |
| TCGA novel | 277 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1455441489 | 277 | Y>C | No |
TOPMed gnomAD |
|
| rs1455441489 | 277 | Y>S | No |
TOPMed gnomAD |
|
|
COSM983782 COSM1589138 |
278 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1178902657 | 279 | G>D | No |
TOPMed gnomAD |
|
| rs370645685 | 280 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs2069825352 | 281 | D>G | No | TOPMed | |
| rs776580538 | 281 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1597454163 | 282 | Y>S | No | Ensembl | |
| rs1338053109 | 283 | P>L | No |
TOPMed gnomAD |
|
| rs2069825045 | 283 | P>T | No | TOPMed | |
| rs780093933 | 284 | T>I | No |
ExAC gnomAD |
|
| rs1597454120 | 284 | T>P | No | Ensembl | |
| rs998069776 | 285 | A>S | No |
TOPMed gnomAD |
|
| rs998069776 | 285 | A>T | No |
TOPMed gnomAD |
|
| rs368353025 | 286 | M>T | No | ESP | |
| rs1044738847 | 288 | P>A | No |
TOPMed gnomAD |
|
| rs966622303 | 288 | P>L | No | Ensembl | |
| rs1044738847 | 288 | P>S | No |
TOPMed gnomAD |
|
| rs1020941550 | 289 | T>A | No | Ensembl | |
| rs2069823128 | 290 | S>C | No | Ensembl | |
|
COSM3521561 COSM3521560 rs2069823128 |
290 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1337015053 | 292 | R>L | No |
TOPMed gnomAD |
|
|
rs1337015053 COSM983780 COSM1589139 |
292 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM1479937 COSM1479936 rs2069822978 |
292 | R>W | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs770891437 | 293 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs749422436 | 293 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs201668547 | 297 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs201452879 | 303 | G>R | No |
1000Genomes ExAC gnomAD |
|
| rs2142846322 | 303 | G>V | No | Ensembl | |
| rs1369703663 | 304 | E>G | No | gnomAD | |
| rs1369703663 | 304 | E>V | No | gnomAD | |
| rs1055597672 | 306 | D>E | No |
TOPMed gnomAD |
|
|
RCV001773271 rs2069820358 |
307 | I>N | No |
ClinVar TOPMed dbSNP |
|
| rs2069820358 | 307 | I>T | No | TOPMed | |
| rs2142846235 | 308 | P>A | No | 1000Genomes | |
| rs1182894684 | 309 | R>G | No | TOPMed | |
| rs893595382 | 311 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
rs764739020 COSM983778 COSM1203718 |
313 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs761560906 | 314 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs1250539641 | 318 | R>Q | No | gnomAD | |
| rs1211165694 | 319 | G>S | No | gnomAD | |
| rs775257550 | 321 | T>M | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 324 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1351991956 | 330 | G>D | No | gnomAD | |
| rs1349960710 | 333 | G>C | No |
TOPMed gnomAD |
|
|
COSM707415 COSM1147846 |
333 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1349960710 | 333 | G>S | No |
TOPMed gnomAD |
|
| COSM5177381 | 334 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs377010784 | 335 | G>A | No | ESP | |
| TCGA novel | 335 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781451434 | 338 | I>V | No |
ExAC TOPMed gnomAD |
|
|
rs749836593 TCGA novel |
344 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC gnomAD NCI-TCGA |
|
rs1408572008 COSM70457 |
345 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs929519333 | 346 | P>L | No | Ensembl | |
| rs1160241742 | 347 | A>T | No | gnomAD | |
| rs764834692 | 348 | D>H | No |
ExAC gnomAD |
|
| rs1186349929 | 349 | L>F | No | gnomAD | |
| rs1410579119 | 352 | E>K | No | gnomAD | |
| rs753514535 | 354 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs756881928 | 354 | R>W | No |
ExAC gnomAD |
|
| rs1273856702 | 355 | K>R | No | TOPMed | |
| rs760503440 | 357 | D>E | No |
ExAC gnomAD |
|
| rs537642886 | 357 | D>H | No |
1000Genomes ExAC |
|
| rs775380315 | 361 | S>L | No |
ExAC gnomAD |
|
| rs2069797541 | 363 | N>S | No | TOPMed | |
| rs911518263 | 364 | G>D | No |
TOPMed gnomAD |
|
| rs1462505009 | 364 | G>S | No | gnomAD | |
| rs1434449183 | 365 | V>A | No | gnomAD | |
| rs1363614359 | 366 | D>N | No | gnomAD | |
| rs1484306543 | 367 | L>F | No | TOPMed | |
| rs1597452714 | 367 | L>P | No | Ensembl | |
| rs2069795677 | 369 | N>S | No | TOPMed | |
| rs867401882 | 370 | A>V | No | TOPMed | |
| rs2069794959 | 372 | H>N | No | Ensembl | |
| rs1256107238 | 372 | H>Q | No | TOPMed | |
|
RCV000760779 rs1567532079 |
374 | Q>* | No |
ClinVar Ensembl dbSNP |
|
| rs1422513642 | 374 | Q>L | No |
TOPMed gnomAD |
|
| rs1161750928 | 377 | I>T | No | TOPMed | |
| rs1410166649 | 377 | I>V | No | gnomAD | |
|
rs866449256 COSM3403174 |
382 | A>V | central_nervous_system [Cosmic] | No |
cosmic curated Ensembl |
| rs2142843728 | 383 | G>C | No | Ensembl | |
|
rs1555522077 CA658798701 RCV000627488 |
385 | T>missing | No |
ClinGen ClinVar dbSNP |
|
| rs1385958753 | 385 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs17203281 | 389 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs771585307 | 390 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2069791021 | 390 | A>V | No | TOPMed | |
| rs1290134952 | 393 | K>E | No | TOPMed | |
| TCGA novel | 394 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1597451912 | 397 | Y>S | No | Ensembl | |
| rs2069779430 | 399 | R>G | No | TOPMed | |
| rs772212071 | 399 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA |
| TCGA novel | 401 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2142842603 | 402 | A>S | No | Ensembl | |
| rs771499875 | 406 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs2069778190 | 407 | L>F | No | Ensembl | |
| rs2069778034 | 409 | E>Q | No | Ensembl | |
| rs749812787 | 410 | Q>H | No |
ExAC gnomAD |
|
| rs778486495 | 411 | L>F | No |
ExAC gnomAD |
|
| rs1464888412 | 412 | M>T | No | gnomAD | |
| rs1272952883 | 413 | N>K | No |
TOPMed gnomAD |
|
| rs769325437 | 414 | S>N | No |
ExAC gnomAD |
|
| rs1377516640 | 414 | S>R | No | gnomAD | |
|
RCV001753999 rs2142842409 |
418 | S>P | No |
ClinVar Ensembl dbSNP |
|
| rs747653625 | 421 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs747653625 | 421 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 422 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV002247145 rs780858708 |
424 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001758150 rs2142842287 |
424 | R>W | No |
ClinVar Ensembl dbSNP |
|
| rs2069775614 | 427 | P>A | No | Ensembl | |
| TCGA novel | 428 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1191454980 | 430 | G>S | No | Ensembl | |
|
RCV001008937 rs1597451690 |
431 | F>missing | No |
ClinVar dbSNP |
|
| rs1424006573 | 431 | F>Y | No | TOPMed | |
| rs1229833331 | 433 | I>V | No |
TOPMed gnomAD |
|
|
COSM4926576 COSM4926575 |
435 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs779730425 | 438 | D>V | No |
ExAC gnomAD |
|
| rs1457576861 | 440 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs757152488 | 446 | G>S | No |
ExAC gnomAD |
|
| rs1483029253 | 450 | Q>R | No | gnomAD | |
| rs2069665032 | 453 | S>N | No | Ensembl | |
| rs752757856 | 454 | F>L | No |
ExAC gnomAD |
|
| rs1355166210 | 455 | R>H | No |
TOPMed gnomAD |
|
| rs1207600580 | 455 | R>S | No |
TOPMed gnomAD |
|
| rs1394364368 | 456 | F>V | No |
TOPMed gnomAD |
|
| rs2069663671 | 463 | I>V | No |
TOPMed gnomAD |
|
| rs1297424245 | 464 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1197899921 | 465 | A>G | No | gnomAD | |
| rs1296639301 | 468 | E>D | No | Ensembl | |
| rs2142831055 | 468 | E>K | No | Ensembl | |
| rs1373353530 | 469 | E>D | No |
TOPMed gnomAD |
|
| rs1386314477 | 470 | W>R | No | gnomAD | |
| TCGA novel | 474 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1431337727 | 475 | R>G | No |
TOPMed gnomAD |
|
| rs1388089243 | 475 | R>Q | No | gnomAD | |
| rs1431337727 | 475 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs765719802 | 476 | V>F | No |
ExAC gnomAD |
|
|
rs1048520623 RCV002247144 |
476 | V>G | No |
ClinVar dbSNP gnomAD |
|
| rs2069661118 | 478 | S>C | No |
TOPMed gnomAD |
|
| rs2069660559 | 481 | E>K | No | gnomAD | |
| rs2069660416 | 482 | T>A | No | Ensembl | |
| rs1450558610 | 483 | D>H | No |
TOPMed gnomAD |
|
| rs1450558610 | 483 | D>N | No |
TOPMed gnomAD |
|
| rs2069659613 | 484 | D>N | No | TOPMed | |
| rs1274220158 | 485 | I>T | No | TOPMed | |
| rs369872199 | 485 | I>V | No |
ESP ExAC gnomAD |
|
| rs2069658834 | 486 | G>A | No | Ensembl | |
| rs1325683864 | 488 | I>V | No | gnomAD | |
| rs562199583 | 490 | S>G | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 492 | R>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs949003631 | 492 | R>Q | No | TOPMed | |
|
rs2069657796 COSM4431926 COSM4431925 |
492 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
|
RCV001754013 rs2142830500 |
493 | R>P | No |
ClinVar Ensembl dbSNP |
|
| rs2142828217 | 496 | R>Q | No | 1000Genomes | |
| rs1160688414 | 499 | W>S | No |
TOPMed gnomAD |
|
|
COSM3521559 COSM3521558 |
502 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774990966 | 504 | A>S | No |
ExAC gnomAD |
|
| rs753267248 | 506 | D>E | No |
ExAC gnomAD |
|
| rs1406722867 | 507 | W>C | No | gnomAD | |
| rs1411239548 | 508 | G>S | No | gnomAD | |
| rs1162993089 | 509 | S>T | No | gnomAD | |
| rs2069629321 | 510 | S>N | No | gnomAD | |
| rs370148547 | 512 | G>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs376874609 | 513 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
| rs2091318984 | 515 | G>D | No | TOPMed | |
| rs778104648 | 516 | R>G | No |
ExAC gnomAD |
|
| rs1487554412 | 516 | R>L | No |
TOPMed gnomAD |
|
|
COSM3403173 COSM117029 rs1487554412 |
516 | R>Q | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs756531801 | 519 | S>L | No |
ExAC TOPMed gnomAD |
|
|
rs756531801 COSM4853101 COSM4853100 |
519 | S>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC TOPMed gnomAD |
| rs1276488507 | 520 | V>D | No | gnomAD | |
| rs200857735 | 520 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs548705072 | 524 | E>* | No |
1000Genomes gnomAD |
|
|
COSM983774 rs1447969047 COSM1589140 |
524 | E>D | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs548705072 | 524 | E>Q | No |
1000Genomes gnomAD |
|
| rs1220391805 | 527 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1567527477 | 529 | M>I | No | Ensembl | |
| rs1456243655 | 529 | M>V | No | gnomAD | |
| rs765912340 | 531 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs1263021242 | 532 | H>P | No | TOPMed | |
| rs1263021242 | 532 | H>R | No | TOPMed | |
|
TCGA novel rs2069612886 |
537 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs375160490 | 538 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 539 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs758467959 | 539 | I>V | No | Ensembl | |
| rs571745764 | 542 | P>T | No |
1000Genomes ExAC gnomAD |
|
| rs1159955470 | 543 | T>S | No |
TOPMed gnomAD |
|
| rs1458909814 | 544 | K>R | No |
TOPMed gnomAD |
|
| rs2069611614 | 545 | D>N | No | TOPMed | |
| rs761648469 | 546 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs368187495 | 546 | R>H | No |
ESP ExAC gnomAD |
|
|
rs760656143 COSM4069171 COSM260439 |
547 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| TCGA novel | 549 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1262464470 | 552 | L>F | No | gnomAD | |
| rs775416014 | 554 | E>* | No |
ExAC gnomAD |
|
| rs775416014 | 554 | E>K | No |
ExAC gnomAD |
|
| rs1361411256 | 557 | D>G | No | gnomAD | |
| rs748458650 | 557 | D>N | No |
ExAC gnomAD |
|
| rs748458650 | 557 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
COSM1385854 COSM1385855 |
558 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 562 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1363705056 | 566 | T>K | No | gnomAD | |
| rs1363705056 | 566 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM6147411 COSM6147412 |
567 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2069587279 | 569 | P>S | No | gnomAD | |
| rs769045378 | 572 | E>Q | No |
ExAC gnomAD |
|
| rs2069586582 | 573 | Y>D | No | Ensembl | |
|
rs914296410 COSM1385846 COSM1385847 |
578 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs1424337986 | 578 | R>W | No | gnomAD | |
| rs200038855 | 584 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs373107787 | 586 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs998129755 | 589 | M>I | No | TOPMed | |
| rs756884028 | 590 | E>Q | No |
ExAC gnomAD |
|
| rs368908045 | 595 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1490100068 | 601 | A>V | No | gnomAD | |
| rs1597442212 | 603 | Q>R | No | Ensembl | |
| rs1275766586 | 606 | S>N | No |
TOPMed gnomAD |
|
| rs755899483 | 606 | S>R | No |
ExAC gnomAD |
|
| rs1233984508 | 609 | Y>C | No | gnomAD | |
| TCGA novel | 617 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2069582720 | 620 | A>T | No | TOPMed | |
| rs2069524272 | 623 | G>R | No |
TOPMed gnomAD |
|
| rs2069523962 | 627 | I>V | No |
TOPMed gnomAD |
|
| rs1051284141 | 629 | D>Y | No | Ensembl | |
|
RCV001806663 rs1488126978 |
636 | R>L | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1488126978 | 636 | R>Q | No |
TOPMed gnomAD |
|
| rs1164146634 | 637 | R>L | No | gnomAD | |
| rs747747289 | 637 | R>W | No |
ExAC gnomAD |
|
| rs2142813927 | 638 | L>V | No | Ensembl | |
| rs2069521843 | 640 | A>T | No | gnomAD | |
| rs371808762 | 640 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2142813835 | 641 | A>G | No | Ensembl | |
| rs2069521193 | 645 | P>T | No | TOPMed | |
| TCGA novel | 647 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs758269670 | 650 | I>V | No |
ExAC gnomAD |
|
|
COSM1385838 COSM1385839 rs1290892445 |
651 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs750438640 COSM4069169 COSM4069170 |
651 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3521553 COSM3521552 |
652 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764066743 | 653 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs764066743 | 653 | R>G | No |
ExAC TOPMed gnomAD |
|
|
RCV002269710 rs756267089 |
653 | R>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs756267089 | 653 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1360253237 | 654 | S>A | No |
TOPMed gnomAD |
|
| rs2069484238 | 663 | K>N | No | Ensembl | |
| rs1045675620 | 664 | R>Q | No | TOPMed | |
| rs561193178 | 665 | I>T | No | 1000Genomes | |
|
rs2142808740 RCV001761160 |
666 | T>P | No |
ClinVar Ensembl dbSNP |
|
| rs763428868 | 667 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs2069483462 | 669 | Q>L | No | TOPMed | |
| rs2069483168 | 671 | R>C | No | Ensembl | |
|
COSM1589142 COSM983770 rs765807698 |
671 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA |
| rs1268471641 | 673 | A>G | No | gnomAD | |
| rs375597341 | 674 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1468235204 | 675 | D>G | No | TOPMed | |
| rs2069482326 | 677 | A>G | No | Ensembl | |
| rs1252920658 | 679 | K>E | No | gnomAD | |
| rs1202336067 | 679 | K>R | No | gnomAD | |
| rs1403947762 | 685 | T>A | No | gnomAD | |
| COSM1385824 | 691 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs985891095 | 691 | I>V | No |
TOPMed gnomAD |
|
| rs758653979 | 692 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs758653979 | 692 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1490423519 | 694 | G>S | No | Ensembl | |
|
COSM1303278 COSM1303277 |
698 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs749224844 | 700 | I>L | No |
ExAC gnomAD |
|
| rs1284098463 | 701 | Y>F | No |
TOPMed gnomAD |
|
| rs1323704761 | 701 | Y>H | No | gnomAD | |
| rs773334832 | 706 | R>C | No |
ExAC gnomAD |
|
| rs1418300268 | 706 | R>H | No |
TOPMed gnomAD |
|
| rs780092811 | 709 | E>A | No |
ExAC gnomAD |
|
|
COSM1385822 COSM1385821 rs747146441 |
709 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 710 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 712 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2069445001 | 712 | S>L | No | gnomAD | |
| rs1208855215 | 713 | G>V | No |
TOPMed gnomAD |
|
| rs1258597108 | 714 | P>A | No | gnomAD | |
| rs1258597108 | 714 | P>S | No | gnomAD | |
|
rs147232488 RCV000955001 |
718 | V>I | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs973283691 | 719 | P>S | No |
TOPMed gnomAD |
|
| rs754310827 | 720 | A>V | No |
ExAC gnomAD |
|
| rs764615722 | 721 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs752263256 | 721 | R>L | No |
ExAC gnomAD |
|
| rs752263256 | 721 | R>Q | No |
ExAC gnomAD |
|
|
COSM3796022 COSM3796023 |
722 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1321252521 | 722 | E>G | No | gnomAD | |
| rs2069443142 | 722 | E>Q | No | TOPMed | |
| TCGA novel | 723 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 725 | L>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2069442656 | 725 | L>L | No | TOPMed |
No associated diseases with P78352
6 regional properties for P78352
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | IPT domain | 193 - 289 | IPR002909 |
| domain | Rel homology domain, DNA-binding domain | 16 - 190 | IPR011539 |
| conserved_site | Rel homology domain, conserved site | 34 - 40 | IPR030492 |
| domain | Transcription factor p65, RHD domain, N-terminal | 19 - 187 | IPR030495 |
| domain | Rel homology dimerisation domain | 195 - 291 | IPR032397 |
| domain | NFkappaB IPT domain | 194 - 290 | IPR033926 |
Functions
27 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| AMPA glutamate receptor complex | An assembly of four or five subunits which form a structure with an extracellular N-terminus and a large loop that together form the ligand binding domain. The C-terminus is intracellular. The ionotropic glutamate receptor complex itself acts as a ligand gated ion channel; on binding glutamate, charged ions pass through a channel in the center of the receptor complex. The AMPA receptors mediate fast synaptic transmission in the CNS and are composed of subunits GluR1-4, products from separate genes. These subunits have an extracellular N-terminus and an intracellular C-terminus. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| 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. |
| cerebellar mossy fiber | An axon arising from cerebellar projecting cells in the cochlea, vestibular nuclei, spinal cord, reticular formation, cerebellar nuclei and basilar pontine nuclei. Mossy fibers enter through all three cerebellar peduncles and send collaterals to the deep cerebellar nuclei, then branch in the white matter and terminate in the granule cell layer. Through this branching, a given mossy fiber can innervate several folia. Mossy fibers synapse on granule cells. The synaptic contacts are made at enlargements along the length of the mossy fiber called mossy fiber rosettes. The enlargements of the rosettes give the axons a mossy-looking appearance in Golgi stained preparations. |
| cortical cytoskeleton | The portion of the cytoskeleton that lies just beneath the plasma membrane. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite cytoplasm | All of the contents of a dendrite, excluding the surrounding plasma membrane. |
| 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. |
| endocytic vesicle membrane | The lipid bilayer surrounding an endocytic vesicle. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| excitatory synapse | A synapse in which an action potential in the presynaptic cell increases the probability of an action potential occurring in the postsynaptic cell. |
| extrinsic component of cytoplasmic side of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| juxtaparanode region of axon | A region of an axon near a node of Ranvier that is between the paranode and internode regions. |
| 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. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| neuron projection terminus | The specialized, terminal region of a neuron projection such as an axon or a dendrite. |
| neuron spine | A small membranous protrusion, often ending in a bulbous head and attached to the neuron by a narrow stalk or neck. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
| postsynaptic density membrane | The membrane component of the postsynaptic density. This is the region of the postsynaptic membrane in which the population of neurotransmitter receptors involved in synaptic transmission are concentrated. |
| 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. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
| synaptic membrane | A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| acetylcholine receptor binding | Binding to an acetylcholine receptor. |
| beta-1 adrenergic receptor binding | Binding to a beta-1 adrenergic receptor. |
| D1 dopamine receptor binding | Binding to a D1 dopamine receptor. |
| ionotropic glutamate receptor binding | Binding to an ionotropic glutamate receptor. Ionotropic glutamate receptors bind glutamate and exert an effect through the regulation of ion channels. |
| kinase binding | Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. |
| neuroligin family protein binding | Binding to a member of the neuroligin protein family, neuronal cell surface proteins that mediate synapse formation. |
| P2Y1 nucleotide receptor binding | Binding to a P2Y1 nucleotide receptor. |
| PDZ domain binding | Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins. |
| protein phosphatase binding | Binding to a protein phosphatase. |
| protein-containing complex binding | Binding to a macromolecular complex. |
| scaffold protein binding | Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes. |
30 GO annotations of biological process
| Name | Definition |
|---|---|
| AMPA glutamate receptor clustering | The glutamate receptor clustering process in which alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors are localized to distinct domains in the cell membrane. |
| cell-cell adhesion | The attachment of one cell to another cell via adhesion molecules. |
| cellular response to potassium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a potassium ion stimulus. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| dendritic spine morphogenesis | The process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission. |
| embryo development | The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. |
| establishment of protein localization | The directed movement of a protein to a specific location. |
| establishment or maintenance of epithelial cell apical/basal polarity | Any cellular process that results in the specification, formation or maintenance of the apicobasal polarity of an epithelial cell. |
| learning | Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience. |
| locomotory exploration behavior | The specific movement from place to place of an organism in response to a novel environment. |
| negative regulation of receptor internalization | Any process that stops, prevents, or reduces the frequency, rate or extent of receptor internalization. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| neuromuscular process controlling balance | Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors. |
| neurotransmitter receptor localization to postsynaptic specialization membrane | A process in which a neurotransmitter is transported to, or maintained in, a location within the membrane adjacent to a postsynaptic specialization (e.g. postsynaptic density). |
| positive regulation of cytosolic calcium ion concentration | Any process that increases the concentration of calcium ions in the cytosol. |
| positive regulation of excitatory postsynaptic potential | Any process that enhances the establishment or increases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. |
| positive regulation of neuron projection arborization | Any process that activates or increases the frequency, rate or extent of the process in which the anatomical structures of a neuron projection are generated and organized into branches. |
| positive regulation of protein tyrosine kinase activity | Any process that increases the rate, frequency, or extent of protein tyrosine kinase activity. |
| positive regulation of synaptic transmission | Any process that activates or increases the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. |
| postsynaptic neurotransmitter receptor diffusion trapping | The process by which diffusing neurotransmitter receptor becomes trapped at the postsynaptic specialization membrane. This is typically due to interaction with components of the post-synaptic specialization. |
| protein localization to synapse | Any process in which a protein is transported to, and/or maintained at the synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| receptor localization to synapse | Any process in which a receptor is transported to, and/or maintained at the synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. |
| regulation of grooming behavior | Any process that modulates the frequency, rate or extent of grooming behavior. |
| regulation of long-term neuronal synaptic plasticity | A process that modulates long-term neuronal synaptic plasticity, the ability of neuronal synapses to change long-term as circumstances require. Long-term neuronal synaptic plasticity generally involves increase or decrease in actual synapse numbers. |
| regulation of NMDA receptor activity | Any process that modulates the frequency, rate or extent of N-methyl-D-aspartate selective glutamate receptor activity. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| social behavior | Behavior directed towards society, or taking place between members of the same species. Occurs predominantly, or only, in individuals that are part of a group. |
| synaptic vesicle maturation | Steps required to form an initiated synaptic vesicle into a fully formed and transmissible synaptic vesicle. |
| vocalization behavior | The behavior in which an organism produces sounds by a mechanism involving its respiratory system. |
21 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P31007 | dlg1 | Disks large 1 tumor suppressor protein | Drosophila melanogaster (Fruit fly) | EV |
| Q9BXL7 | CARD11 | Caspase recruitment domain-containing protein 11 | Homo sapiens (Human) | EV |
| Q92796 | DLG3 | Disks large homolog 3 | Homo sapiens (Human) | SS |
| Q12959 | DLG1 | Disks large homolog 1 | Homo sapiens (Human) | SS |
| Q15700 | DLG2 | Disks large homolog 2 | Homo sapiens (Human) | SS |
| Q96NW7 | LRRC7 | Leucine-rich repeat-containing protein 7 | Homo sapiens (Human) | PR |
| Q8CIS0 | Card11 | Caspase recruitment domain-containing protein 11 | Mus musculus (Mouse) | SS |
| Q99KF0 | Card14 | Caspase recruitment domain-containing protein 14 | Mus musculus (Mouse) | PR |
| P70175 | Dlg3 | Disks large homolog 3 | Mus musculus (Mouse) | SS |
| Q811D0 | Dlg1 | Disks large homolog 1 | Mus musculus (Mouse) | SS |
| Q91XM9 | Dlg2 | Disks large homolog 2 | Mus musculus (Mouse) | SS |
| Q62108 | Dlg4 | Disks large homolog 4 | Mus musculus (Mouse) | SS |
| Q63622 | Dlg2 | Disks large homolog 2 | Rattus norvegicus (Rat) | EV |
| Q62696 | Dlg1 | Disks large homolog 1 | Rattus norvegicus (Rat) | SS |
| Q62936 | Dlg3 | Disks large homolog 3 | Rattus norvegicus (Rat) | SS |
| P31016 | Dlg4 | Disks large homolog 4 | Rattus norvegicus (Rat) | SS |
| G5ECY0 | dlg-1 | Disks large homolog 1 | Caenorhabditis elegans | SS |
| Q28C55 | dlg1 | Disks large homolog 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| Q5PYH5 | dlg1l | Discs large homolog 1-like protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q5PYH7 | dlg2 | Disks large homolog 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q6R005 | dlg4 | Disks large homolog 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDCLCIVTTK | KYRYQDEDTP | PLEHSPAHLP | NQANSPPVIV | NTDTLEAPGY | ELQVNGTEGE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MEYEEITLER | GNSGLGFSIA | GGTDNPHIGD | DPSIFITKII | PGGAAAQDGR | LRVNDSILFV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NEVDVREVTH | SAAVEALKEA | GSIVRLYVMR | RKPPAEKVME | IKLIKGPKGL | GFSIAGGVGN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QHIPGDNSIY | VTKIIEGGAA | HKDGRLQIGD | KILAVNSVGL | EDVMHEDAVA | ALKNTYDVVY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LKVAKPSNAY | LSDSYAPPDI | TTSYSQHLDN | EISHSSYLGT | DYPTAMTPTS | PRRYSPVAKD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLGEEDIPRE | PRRIVIHRGS | TGLGFNIVGG | EDGEGIFISF | ILAGGPADLS | GELRKGDQIL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SVNGVDLRNA | SHEQAAIALK | NAGQTVTIIA | QYKPEEYSRF | EAKIHDLREQ | LMNSSLGSGT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ASLRSNPKRG | FYIRALFDYD | KTKDCGFLSQ | ALSFRFGDVL | HVIDASDEEW | WQARRVHSDS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ETDDIGFIPS | KRRVERREWS | RLKAKDWGSS | SGSQGREDSV | LSYETVTQME | VHYARPIIIL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GPTKDRANDD | LLSEFPDKFG | SCVPHTTRPK | REYEIDGRDY | HFVSSREKME | KDIQAHKFIE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AGQYNSHLYG | TSVQSVREVA | EQGKHCILDV | SANAVRRLQA | AHLHPIAIFI | RPRSLENVLE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| INKRITEEQA | RKAFDRATKL | EQEFTECFSA | IVEGDSFEEI | YHKVKRVIED | LSGPYIWVPA |
| RERL |