P98174
PR
Gene name |
FGD1 (FGDY, ZFYVE3) |
Protein name |
FYVE, RhoGEF and PH domain-containing protein 1 |
Names |
Faciogenital dysplasia 1 protein, Rho/Rac guanine nucleotide exchange factor FGD1, Rho/Rac GEF, Zinc finger FYVE domain-containing protein 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2245 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P98174
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P98174-F1 | Predicted | AlphaFoldDB |
504 variants for P98174
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001252496 rs1161949227 |
6 | A>D | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1557191602 RCV000483152 RCV002431409 |
10 | A>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779475596 RCV002358397 RCV000517861 CA10425322 RCV002527473 |
21 | N>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1358236718 CA413255118 RCV002561009 RCV001193341 |
23 | P>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA148160 RCV002316241 RCV000081083 rs75659311 RCV001539709 |
37 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10425314 rs765178830 RCV002318838 |
40 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000659633 rs1557191567 |
93 | Y>missing | Aarskog syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000990841 rs910374883 CA328938499 |
129 | G>D | Aarskog syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA148166 RCV000514781 RCV000081097 RCV000608756 rs145644275 RCV002313779 |
132 | R>Q | Aarskog syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA413250400 rs1569541278 RCV000721052 |
139 | P>S | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA328938475 rs1029761293 RCV000990840 |
146 | Q>R | Aarskog syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1342329216 RCV001260708 |
172 | R>Q | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1222189428 RCV001252494 CA413249582 |
172 | R>W | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002272226 RCV000624698 rs756586058 RCV000415303 |
176 | P>missing | Aarskog syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000177205 rs756586058 RCV000790801 |
177 | L>missing | Aarskog syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001262443 rs1922869724 |
182 | P>missing | Aarskog syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10425247 RCV000660579 rs773941303 |
200 | P>S | Aarskog syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
| VAR_019268 | 205 | S>I | AAS [UniProt] | Yes | UniProt |
|
CA243324 rs148139633 RCV000177206 RCV002516732 |
208 | S>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002316244 RCV000514490 rs138723423 RCV000081099 CA148168 |
226 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001089540 rs1922859149 |
227 | S>missing | Aarskog syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577914 rs1557189608 |
298 | C>missing | Aarskog syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_019269 rs28935498 RCV000604954 RCV002316189 RCV001252498 RCV000224897 CA121191 |
312 | P>L | Intellectual disability Aarskog syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000011580 rs1569541255 |
316 | A>missing | Aarskog syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000623163 rs1557189592 CA413247883 |
333 | Q>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001198425 rs757595052 |
350 | E>missing | Aarskog syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001252497 rs377155391 |
365 | S>P | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_019270 | 380 | E>A | AAS [UniProt] | Yes | UniProt |
|
RCV000856731 rs1601954686 |
382 | L>missing | Aarskog syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137853265 CA121193 RCV000011577 |
408 | R>Q | Aarskog syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA413246731 RCV001268403 RCV000659634 COSM3965381 rs1557189455 |
414 | P>L | lung Aarskog syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA413246298 rs137853266 RCV002060688 RCV000624593 VAR_019271 |
443 | R>H | Aarskog syndrome Inborn genetic diseases AAS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs137853266 RCV000011579 CA121195 |
443 | R>L | Aarskog syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000011581 rs137853267 CA121197 |
466 | M>V | Aarskog syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1557189266 RCV000659635 |
482 | N>missing | Aarskog syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601953661 CA413244553 RCV000990839 |
484 | W>* | Aarskog syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000624713 CA413243903 rs1557189253 |
517 | V>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413243852 RCV000623017 rs1557189252 COSM287122 |
519 | R>C | large_intestine Variant assessed as Somatic; impact. Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000721053 CA222713 RCV002051807 RCV000081086 rs398124157 |
519 | R>H | Intellectual developmental disorder, X-linked, syndromic 16 Variant assessed as Somatic; impact. History of neurodevelopmental disorder [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA121190 RCV000011573 rs137853264 VAR_015236 |
522 | R>H | Variant assessed as Somatic; impact. Aarskog syndrome AAS [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP |
|
rs398124159 CA222719 RCV000081089 RCV001266042 |
522 | R>S | Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1922738632 RCV001267326 |
524 | E>D | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601953552 CA413243674 RCV000856740 |
530 | Y>* | Aarskog syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000659637 rs1557188567 CA413360364 |
578 | L>S | Aarskog syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000995924 CA413360182 RCV001262422 rs1601950673 |
604 | N>S | Aarskog syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000309625 VAR_015237 rs28935497 CA121189 RCV000011572 |
610 | R>Q | Variant assessed as Somatic; impact. Aarskog syndrome AAS [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA128808 RCV000022866 rs387906718 |
656 | R>* | Aarskog syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1557188474 CA413359794 RCV000622614 |
660 | V>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000659638 CA413359733 rs1557188473 |
669 | L>R | Aarskog syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1922347865 RCV001333253 |
673 | T>A | Aarskog syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs370970773 CA240521 RCV000174896 RCV001762397 |
723 | R>W | Variant assessed as Somatic; 0.0 impact. Aarskog syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000401549 rs373950992 COSM1123426 CA10424960 RCV003144193 |
772 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium Aarskog syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1269514277 RCV000659639 CA413358006 |
910 | R>* | Variant assessed as Somatic; impact. Aarskog syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM3379662 CA353590 rs869312743 RCV000210282 |
921 | R>* | pancreas Aarskog syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000378971 RCV002317816 rs147012050 CA10424890 |
939 | E>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201610363 CA10424889 RCV002534945 RCV002316694 |
941 | P>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA413255418 rs1466809743 |
2 | H>R | No |
ClinGen TOPMed |
|
|
CA413255381 rs1425448636 |
5 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1387161682 CA413255371 |
5 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1161949227 CA413255358 |
6 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA413255342 rs1444208859 |
8 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1391189649 CA413255323 |
9 | G>D | No |
ClinGen gnomAD |
|
|
rs1485178641 CA413255302 |
11 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778268398 CA10425323 |
15 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV001092791 rs1923512525 |
16 | E>missing | No |
ClinVar dbSNP |
|
|
CA328946724 rs899436288 |
16 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 16 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs930881573 CA328946725 |
16 | E>Q | No |
ClinGen TOPMed |
|
|
rs1601963671 CA413255181 |
18 | P>L | No |
ClinGen Ensembl |
|
|
rs1490389162 CA413255167 |
19 | A>V | No |
ClinGen gnomAD |
|
|
CA413255120 rs1358236718 |
23 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA413255102 rs1216051873 |
25 | A>G | No |
ClinGen gnomAD |
|
|
CA328946719 rs925037152 |
27 | P>L | No |
ClinGen gnomAD |
|
|
rs112746751 CA328946706 |
29 | A>G | No |
ClinGen Ensembl |
|
|
RCV000981509 CA10425320 rs752282314 |
29 | A>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs112746751 CA413255075 |
29 | A>V | No |
ClinGen Ensembl |
|
|
rs1367580810 CA413255063 |
30 | C>F | No |
ClinGen gnomAD |
|
|
CA10425318 rs754647261 |
31 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs754647261 CA10425319 |
31 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA413255030 rs1223854536 |
33 | S>A | No |
ClinGen TOPMed |
|
|
CA413255009 rs766075933 |
34 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751292327 CA10425317 |
34 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427168642 CA413254995 |
35 | P>H | No |
ClinGen gnomAD |
|
|
CA10425315 RCV001092790 rs762821012 |
36 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1224147634 CA413254978 |
37 | A>S | No |
ClinGen gnomAD |
|
|
CA413254934 rs1219537911 |
41 | G>R | No |
ClinGen gnomAD |
|
|
rs1490088418 CA413254924 |
41 | G>V | No |
ClinGen gnomAD |
|
|
rs1251593107 CA413254918 |
42 | L>Q | No |
ClinGen gnomAD |
|
|
CA10425313 rs761788025 |
45 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776660660 CA10425312 |
45 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776660660 CA413254884 |
45 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001200501 rs1923506408 |
47 | G>missing | No |
ClinVar dbSNP |
|
|
rs768787277 CA10425311 |
47 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1347276780 CA413254863 |
48 | S>T | No |
ClinGen gnomAD |
|
|
rs760870145 CA10425310 |
52 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1415764166 CA413254802 |
54 | G>C | No |
ClinGen TOPMed |
|
| TCGA novel | 56 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200463 rs398124160 RCV000173343 |
59 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA328946667 rs867112638 |
62 | G>R | No |
ClinGen Ensembl |
|
|
CA413254669 rs1165901294 |
66 | T>I | No |
ClinGen TOPMed |
|
|
rs375022151 CA10425305 |
67 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10425304 rs749854866 |
67 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432163714 CA413254633 |
70 | A>P | No |
ClinGen gnomAD |
|
|
rs780845533 CA10425303 |
71 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA413254620 rs1178627641 |
71 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 72 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413254602 rs1479424555 |
73 | G>D | No |
ClinGen gnomAD |
|
|
CA328946603 rs961930847 |
74 | H>L | No |
ClinGen Ensembl |
|
|
CA413254589 rs1250577512 |
74 | H>Q | No |
ClinGen gnomAD |
|
|
CA413254584 rs1203985831 |
75 | R>G | No |
ClinGen gnomAD |
|
|
CA328946598 rs867683841 |
75 | R>L | No |
ClinGen Ensembl |
|
|
CA10425302 rs754594139 |
77 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 78 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746586922 CA10425301 |
78 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA413254528 rs1309206982 |
80 | G>D | No |
ClinGen gnomAD |
|
|
rs758077980 CA10425299 |
80 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1389923237 CA413254525 |
81 | P>S | No |
ClinGen gnomAD |
|
|
CA328946584 rs945333070 |
82 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs750208071 CA10425298 |
84 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1454970020 CA413254485 |
87 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA328946580 rs913891414 |
87 | R>P | No |
ClinGen TOPMed |
|
|
rs1454970020 CA413254484 |
87 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA10425297 rs371740120 |
90 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA413254453 rs1213196287 |
92 | S>C | No |
ClinGen TOPMed |
|
|
RCV000153233 rs189159946 CA233986 |
94 | H>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA413254423 rs1569541548 |
97 | G>S | No |
ClinGen Ensembl |
|
|
CA10425296 rs753827121 |
98 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10425295 rs764099715 |
99 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs867793721 CA328946553 |
101 | R>L | No |
ClinGen Ensembl |
|
|
RCV000733242 CA413250849 rs1569541280 |
107 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10425290 COSM1468676 rs759728785 |
109 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 109 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs536085657 CA10425289 |
111 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA10425288 rs771489547 |
112 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 114 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186496707 CA413250656 |
122 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 123 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429064286 CA413250626 |
124 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA241551 rs749800625 RCV000175783 |
125 | P>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs773870343 CA413250593 |
127 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773870343 CA10425287 |
127 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA328938505 rs867885281 |
129 | G>S | No |
ClinGen Ensembl |
|
|
rs199677604 CA10425286 |
130 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA413250528 rs1292566305 |
131 | Q>P | No |
ClinGen gnomAD |
|
|
CA413250526 rs1292566305 |
131 | Q>R | No |
ClinGen gnomAD |
|
|
CA10425285 rs746549256 |
132 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758037401 CA10425284 |
134 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA413250479 rs1601955742 |
134 | R>H | No |
ClinGen Ensembl |
|
|
CA413250428 rs1464982448 |
137 | P>S | No |
ClinGen TOPMed |
|
|
CA413250411 rs1328546434 |
138 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs375401522 CA10425283 |
138 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1382123558 CA413250384 |
140 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA413250366 rs1303177629 |
142 | E>K | No |
ClinGen gnomAD |
|
|
CA413250346 rs1601955718 |
143 | T>P | No |
ClinGen Ensembl |
|
|
CA413250318 rs1363268129 |
145 | S>N | No |
ClinGen gnomAD |
|
|
CA413250281 rs1407732553 |
147 | R>C | No |
ClinGen TOPMed |
|
|
CA241549 RCV000175782 rs200707592 |
147 | R>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1374555828 CA413250209 |
151 | L>P | No |
ClinGen gnomAD |
|
|
CA413250214 rs1475657792 |
151 | L>V | No |
ClinGen gnomAD |
|
|
CA413250176 rs1162044129 RCV000591890 |
153 | R>G | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
COSM613401 rs764048528 CA10425280 |
153 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA413250179 rs1162044129 |
153 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs756100428 CA10425279 |
154 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1489924309 CA413250134 |
155 | P>L | No |
ClinGen gnomAD |
|
|
rs752802742 CA10425278 |
155 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1440328227 CA413250127 |
156 | G>R | No |
ClinGen TOPMed |
|
|
rs774771751 CA10425276 |
157 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs774771751 CA10425275 |
157 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA10425261 rs752647008 |
163 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs755027957 CA10425259 |
168 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1231601730 CA413249606 |
169 | Q>K | No |
ClinGen TOPMed |
|
|
CA413249597 rs1265617233 |
170 | M>V | No |
ClinGen gnomAD |
|
|
CA413249580 rs1342329216 |
172 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1442529652 CA413249572 |
173 | M>I | No |
ClinGen gnomAD |
|
|
CA10425258 rs751766005 |
173 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413249577 rs751766005 |
173 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531846393 CA328938269 |
174 | P>R | No |
ClinGen gnomAD |
|
|
CA328938270 rs866636257 |
174 | P>S | No |
ClinGen Ensembl |
|
|
CA413249561 rs1329058824 |
175 | P>L | No |
ClinGen gnomAD |
|
|
rs763313572 CA10425256 |
176 | P>A | No |
ClinGen ExAC gnomAD |
|
| rs756586058 | 176 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10425254 rs201843295 |
176 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413249558 rs201843295 |
176 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201843295 CA10425255 |
176 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763313572 CA413249559 |
176 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA413249554 rs1569541265 |
177 | L>P | No |
ClinGen Ensembl |
|
|
CA413249548 rs1424577805 |
178 | E>G | No |
ClinGen gnomAD |
|
|
rs1159177074 CA413249535 |
180 | I>L | No |
ClinGen gnomAD |
|
|
CA413249533 rs1471282267 |
180 | I>T | No |
ClinGen gnomAD |
|
|
CA413249521 rs1462075517 |
182 | P>H | No |
ClinGen gnomAD |
|
|
CA10425251 rs762368485 |
182 | P>T | No |
ClinGen ExAC |
|
|
CA413249514 rs1202356204 |
183 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA413249496 rs1277307657 RCV000782062 |
186 | R>H | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1277307657 CA413249494 |
186 | R>L | No |
ClinGen gnomAD |
|
|
CA413249471 rs1352195885 |
190 | A>V | No |
ClinGen gnomAD |
|
|
RCV001175483 RCV002559681 rs1922868484 |
191 | D>N | No |
ClinVar dbSNP |
|
|
RCV000081098 CA222725 rs398124164 |
192 | P>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs398124164 CA413249461 |
192 | P>T | No |
ClinGen gnomAD |
|
|
RCV000596461 CA413249456 rs1557189664 |
193 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1383316675 CA413249454 |
193 | R>P | No |
ClinGen gnomAD |
|
|
rs1383316675 CA413249455 |
193 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413249444 rs1445772652 |
195 | A>S | No |
ClinGen gnomAD |
|
|
CA413249409 rs1379164906 |
201 | R>G | No |
ClinGen TOPMed |
|
|
rs1466312658 CA413249405 |
201 | R>M | No |
ClinGen TOPMed |
|
|
CA10425245 rs748982110 |
202 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA413249402 rs748982110 |
202 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 204 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777543711 CA413249371 |
206 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10425244 rs777543711 |
206 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10425243 rs748061560 |
209 | A>V | No |
ClinGen ExAC |
|
|
CA10425242 rs780997196 |
210 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA413249346 rs1472768032 |
211 | V>I | No |
ClinGen gnomAD |
|
|
rs751714526 CA10425240 |
212 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1218549938 CA413249329 RCV000522602 |
214 | L>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1260448068 CA413249254 |
222 | P>L | No |
ClinGen gnomAD |
|
|
CA413249238 rs1458745426 |
225 | V>F | No |
ClinGen TOPMed |
|
| TCGA novel | 226 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218887711 CA413249215 |
228 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs776584181 CA10425224 |
232 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA10425223 rs377764825 |
233 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 233 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413249179 rs1390978686 |
234 | P>L | No |
ClinGen TOPMed |
|
|
rs1216290903 CA413249158 |
238 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA413249113 rs1286845594 |
242 | V>A | No |
ClinGen TOPMed |
|
|
rs146305162 CA10425221 |
249 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201366155 CA10425217 |
258 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201366155 CA413248907 |
258 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756611838 CA10425215 |
259 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10425216 rs764561536 |
259 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1423461928 CA413248845 |
263 | R>C | No |
ClinGen gnomAD |
|
|
CA10425214 rs753265001 |
263 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA328938175 rs888998909 |
264 | C>G | No |
ClinGen Ensembl |
|
|
CA413248706 rs1482843493 |
272 | P>L | No |
ClinGen TOPMed |
|
|
CA413248716 rs1268812708 |
272 | P>T | No |
ClinGen gnomAD |
|
|
rs1487932063 CA413248701 |
273 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs371142178 CA328938162 |
273 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10425211 rs764821000 |
275 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764821000 CA10425210 |
275 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315826959 CA413248663 |
276 | E>Q | No |
ClinGen gnomAD |
|
|
CA10425209 rs776282811 |
278 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs776282811 CA10425208 |
278 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM404305 rs1412938383 CA413248593 |
281 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA10425207 rs768627272 |
285 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs746881758 CA10425206 |
286 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 291 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300278283 CA413248405 |
295 | E>K | No |
ClinGen gnomAD |
|
|
CA413248403 rs1300278283 |
295 | E>Q | No |
ClinGen gnomAD |
|
|
CA413248365 rs1166276908 |
297 | T>N | No |
ClinGen TOPMed |
|
|
RCV000081100 rs398124165 CA222727 COSM1468671 |
300 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs398124165 CA10425203 |
300 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749593888 CA10425201 RCV000431967 |
304 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10425199 rs753136319 |
305 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs753136319 CA10425198 |
305 | P>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000658055 rs768047002 CA10425197 |
306 | P>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA10425195 rs749881777 |
311 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs761355807 CA10425194 |
313 | G>W | No |
ClinGen ExAC |
|
|
rs959361511 CA328938110 |
316 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 318 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs570837555 CA10425191 |
319 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA328938106 rs570837555 |
319 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413247996 rs1232546069 |
324 | L>F | No |
ClinGen gnomAD |
|
|
CA328938103 rs867227626 |
325 | A>V | No |
ClinGen Ensembl |
|
|
CA10425190 rs775518382 |
326 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 327 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774292030 CA10425187 |
328 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs377661607 CA10425185 |
329 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377661607 CA10425184 |
329 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10425186 rs771102505 |
329 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781588464 CA10425180 |
344 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs752163155 CA10425178 |
345 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM191778 rs1160132540 CA413247727 |
345 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs778225809 CA10425176 |
350 | E>Q | No |
ClinGen ExAC |
|
|
rs1254066286 CA413247637 |
354 | E>K | No |
ClinGen gnomAD |
|
|
CA10425174 rs369379689 |
357 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1482234195 CA413247573 |
359 | L>P | No |
ClinGen TOPMed |
|
|
CA413247518 rs1486257831 |
363 | Q>* | No |
ClinGen gnomAD |
|
|
CA10425173 rs763861612 |
364 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA328938072 rs951180092 |
364 | E>K | No |
ClinGen TOPMed |
|
|
CA10425172 rs377155391 |
365 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA328938069 rs140078362 |
366 | V>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 368 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10425149 rs767160732 |
370 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs372266456 CA10425150 |
370 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413247336 rs1320534958 |
371 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10425148 rs759381111 |
373 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA413247297 rs1397655152 |
374 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
rs1601954701 CA413247278 |
375 | F>I | No |
ClinGen Ensembl |
|
|
CA10425147 rs751413099 |
377 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs201041337 CA328937886 |
379 | N>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA413247148 rs1224923587 |
384 | T>S | No |
ClinGen TOPMed |
|
|
CA10425145 rs369750062 |
389 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776840906 CA10425141 |
393 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477561418 CA413247030 |
393 | H>Y | No |
ClinGen gnomAD |
|
|
CA413246893 rs1273923746 |
399 | F>L | No |
ClinGen gnomAD |
|
|
CA328937762 rs868368044 |
401 | A>V | No |
ClinGen Ensembl |
|
|
CA413246862 rs1240397127 |
402 | R>Q | No |
ClinGen gnomAD |
|
|
rs867398152 CA328937760 |
405 | E>* | No |
ClinGen Ensembl |
|
|
rs1306764549 CA413246798 COSM1716148 |
408 | R>W | small_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs776663531 CA10425125 |
410 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764354840 CA10425124 |
410 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA413246773 rs764354840 |
410 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA413246726 rs1159414135 |
415 | A>T | No |
ClinGen gnomAD |
|
|
CA413246723 rs1441724923 |
415 | A>V | No |
ClinGen gnomAD |
|
|
COSM1123437 CA328937749 rs1014075574 |
417 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA10425120 rs746321535 |
420 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA413246665 rs1186011505 |
420 | G>S | No |
ClinGen gnomAD |
|
|
RCV000179441 rs398124155 CA203295 |
429 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 429 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413246494 rs1216931803 |
431 | F>L | No |
ClinGen gnomAD |
|
|
CA413246382 rs1283644248 |
438 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 443 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285985816 CA413246283 |
444 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 448 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757230624 CA10425109 |
449 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10425108 rs753921961 |
450 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10425107 rs764146815 |
451 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs867914854 CA328937326 |
452 | R>C | No |
ClinGen Ensembl |
|
| TCGA novel | 453 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA328937321 rs879221937 |
471 | V>M | No |
ClinGen Ensembl |
|
|
CA413244686 rs1401996796 |
476 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs147008826 CA10425103 |
478 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10425102 rs147008826 |
478 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1378803467 CA413244625 |
481 | V>I | No |
ClinGen TOPMed |
|
|
rs1352012610 CA413244593 |
482 | N>K | No |
ClinGen gnomAD |
|
|
rs1256562842 CA413244530 |
485 | T>I | No |
ClinGen gnomAD |
|
|
rs763597806 CA10425100 |
487 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10425098 rs768111621 |
489 | T>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000179887 rs398124156 CA203480 |
490 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10425087 rs767875547 |
501 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA10425086 rs759888075 |
502 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426912487 CA413244111 |
506 | N>H | No |
ClinGen gnomAD |
|
|
rs398124158 CA222715 RCV000081087 |
520 | I>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000480896 rs398124159 CA10606230 |
522 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs866721072 CA328937251 |
524 | E>K | No |
ClinGen TOPMed |
|
|
CA413243560 rs1456331194 |
539 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 549 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209723632 CA413360556 |
552 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 561 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413360481 rs1376584350 COSM141640 |
563 | R>C | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA329092056 rs868078125 |
563 | R>H | No |
ClinGen Ensembl |
|
|
CA413360483 rs1376584350 |
563 | R>S | No |
ClinGen gnomAD |
|
|
rs931466859 CA329091979 |
567 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 568 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413360425 rs1488481773 |
569 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 581 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 582 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 590 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 601 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413360171 rs1317340640 |
606 | T>P | No |
ClinGen TOPMed |
|
|
rs1388280500 CA413360086 COSM70775 |
617 | D>N | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1325164283 CA413360076 |
618 | R>C | No |
ClinGen gnomAD |
|
|
rs1466038381 CA413360075 |
618 | R>H | No |
ClinGen gnomAD |
|
|
rs1475116804 CA413360064 |
620 | L>F | No |
ClinGen gnomAD |
|
|
CA10425043 rs754355805 |
623 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1199860274 CA413360034 |
624 | P>L | No |
ClinGen gnomAD |
|
|
CA413360037 rs1252713518 |
624 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM150790 rs750105234 CA329091821 |
627 | R>W | Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA413360015 rs1193633153 |
628 | L>F | No |
ClinGen gnomAD |
|
|
CA10425042 rs766944844 |
630 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10425040 rs773945347 |
636 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA329091800 rs866023166 COSM225937 |
637 | A>E | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1379096006 CA413359950 |
638 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1054085627 CA329091796 |
639 | I>M | No |
ClinGen TOPMed |
|
|
CA413359933 rs1454473358 |
641 | V>I | No |
ClinGen TOPMed |
|
|
rs1306479962 CA413359915 |
643 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 647 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329091709 rs984927603 |
652 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs747061359 CA10425031 |
656 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 656 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421947550 RCV001092789 CA413359759 |
665 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA413359757 rs1159898849 COSM3673399 |
665 | R>H | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM174169 CA10425030 rs780220782 |
668 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
RCV000730261 rs1467677907 CA413359685 |
675 | E>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA10425018 rs750107745 |
678 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA329089811 rs930089542 |
679 | D>E | No |
ClinGen TOPMed |
|
|
rs1269305114 CA413359653 |
679 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 679 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413359628 rs1235109355 |
682 | Q>R | No |
ClinGen TOPMed |
|
|
rs1196999933 CA413359596 |
685 | N>T | No |
ClinGen TOPMed |
|
|
rs1211721605 CA413359580 |
687 | T>I | No |
ClinGen gnomAD |
|
|
CA10425009 rs779226954 |
694 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA413359516 rs1360207511 |
697 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 699 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1475744969 CA413359488 |
701 | L>S | No |
ClinGen TOPMed |
|
|
rs1601948799 CA413359467 |
704 | T>K | No |
ClinGen Ensembl |
|
|
RCV000174747 rs398124161 |
705 | N>missing | No |
ClinVar dbSNP |
|
|
rs1324492689 CA413359452 |
706 | R>K | No |
ClinGen gnomAD |
|
|
CA413359421 rs1393105400 |
710 | D>G | No |
ClinGen gnomAD |
|
|
CA329089687 rs941339199 |
711 | T>S | No |
ClinGen Ensembl |
|
|
rs398124162 RCV000174748 |
713 | P>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 714 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757933033 CA10425005 |
716 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10425004 rs757933033 |
716 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1278446804 CA413359355 |
719 | D>H | No |
ClinGen gnomAD |
|
|
CA413359327 rs1253728802 |
723 | R>Q | No |
ClinGen TOPMed |
|
|
rs748539098 CA10424989 |
726 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA413359294 rs1601948605 |
729 | R>W | No |
ClinGen Ensembl |
|
|
rs757801778 CA10424987 |
732 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 732 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329089508 rs1043072511 |
733 | V>L | No |
ClinGen Ensembl |
|
|
rs865877024 CA329089487 |
735 | M>I | No |
ClinGen Ensembl |
|
|
CA10424986 rs745349549 |
735 | M>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001200500 rs1922317423 |
736 | C>R | No |
ClinVar dbSNP |
|
|
CA413359229 rs1378980848 COSM1123428 |
738 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs778629490 CA10424985 |
738 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 744 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 752 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs398124163 CA222721 RCV000081095 |
753 | C>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 761 | C>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10424963 rs754931200 |
768 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA10424962 rs754931200 |
768 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 769 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413358994 rs1294118834 |
770 | R>C | No |
ClinGen TOPMed |
|
|
rs751512554 CA10424961 |
770 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1290828904 CA413358956 |
776 | N>H | No |
ClinGen gnomAD |
|
|
COSM3364056 rs1569540987 CA413358946 RCV000731071 |
777 | R>C | kidney [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA329089376 rs910292238 |
783 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs762003845 CA10424956 |
784 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299941044 CA413358877 |
787 | V>E | No |
ClinGen gnomAD |
|
|
rs761173572 CA10424953 |
800 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1164232390 CA413358787 |
800 | S>R | No |
ClinGen gnomAD |
|
|
rs1481554662 CA413358771 |
802 | H>Q | No |
ClinGen TOPMed |
|
|
rs1478185559 CA413358776 |
802 | H>Y | No |
ClinGen gnomAD |
|
|
rs1191275887 CA413358761 |
804 | P>H | No |
ClinGen gnomAD |
|
|
COSM1193356 CA413358747 rs1569540985 |
806 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1268442161 CA413358742 |
807 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA413358743 rs1428311418 |
807 | R>W | No |
ClinGen gnomAD |
|
|
rs1256474175 CA413358725 |
810 | I>V | No |
ClinGen TOPMed |
|
|
rs1251998110 CA413358694 |
813 | K>Q | No |
ClinGen gnomAD |
|
|
CA413358680 rs1193722958 |
814 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 817 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413358658 rs1338280643 COSM70774 |
818 | A>S | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA10424939 rs762033833 |
820 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 820 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1601947631 CA413358632 |
822 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 823 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329088780 rs1021456673 |
823 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs777880180 CA329088766 |
825 | C>F | No |
ClinGen Ensembl |
|
| TCGA novel | 829 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 832 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199778891 CA10424932 |
844 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141476994 CA10424931 |
845 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10424929 rs780741710 |
851 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329088728 rs763308801 |
854 | Y>* | No |
ClinGen Ensembl |
|
|
rs1569540956 CA413358399 RCV000711631 |
855 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1230271815 CA413358390 |
856 | Y>S | No |
ClinGen TOPMed |
|
|
rs769308984 CA10424925 |
857 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs768230678 | 859 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413358372 rs1474169196 |
859 | P>S | No |
ClinGen gnomAD |
|
|
CA413358340 rs1569540924 |
862 | V>M | No |
ClinGen Ensembl |
|
|
rs947732354 CA329088292 |
871 | I>T | No |
ClinGen TOPMed |
|
|
rs1269443836 CA413358280 |
871 | I>V | No |
ClinGen TOPMed |
|
|
CA413358261 rs1277082142 |
874 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1282126543 CA413358230 |
878 | P>L | No |
ClinGen gnomAD |
|
|
CA413358222 rs1455985175 |
879 | E>D | No |
ClinGen TOPMed |
|
|
rs775291919 CA10424904 |
880 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1231705653 CA413358200 |
883 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1295137376 CA413358201 |
883 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413358193 rs1355130799 |
884 | P>R | No |
ClinGen gnomAD |
|
|
CA10424903 rs749295189 |
887 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1433386330 CA413358172 |
887 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA413358162 rs1324997240 |
889 | V>F | No |
ClinGen gnomAD |
|
|
CA413358094 rs1462359223 |
898 | S>N | No |
ClinGen gnomAD |
|
|
CA413358026 RCV000490039 rs1085307841 |
907 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs771786145 COSM3713919 CA10424901 |
910 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 911 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs968233163 CA329088235 |
911 | R>H | No |
ClinGen TOPMed |
|
|
rs1922171377 RCV001291570 |
912 | W>* | No |
ClinVar dbSNP |
|
| TCGA novel | 914 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10424899 rs767928682 |
918 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs368175921 CA329088222 |
921 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA413357924 rs1601946562 |
923 | D>E | No |
ClinGen Ensembl |
|
|
CA413357931 rs1319984452 |
923 | D>N | No |
ClinGen TOPMed |
|
|
CA413357923 rs1476284069 |
924 | T>A | No |
ClinGen gnomAD |
|
|
CA413357918 rs1247164376 |
924 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs374025380 CA10424897 |
927 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1240103714 CA413357901 |
927 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000153230 CA233984 rs727503925 |
929 | P>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA413357888 rs1468817513 |
929 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 930 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329088192 rs917952734 |
933 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 933 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10424894 rs776004329 |
935 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA413357833 CA10424892 rs760250901 |
937 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs763603363 CA10424893 |
937 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10424891 rs775152225 |
938 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1601946510 CA413357823 |
939 | E>* | No |
ClinGen Ensembl |
|
|
CA10424885 rs777656772 |
947 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 949 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413357749 rs1474070705 |
951 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA413357742 rs1416088146 |
952 | P>R | No |
ClinGen gnomAD |
|
|
CA10424884 rs374402628 |
952 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10424882 rs781589438 |
953 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 953 | E>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751842918 CA10424880 |
954 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751842918 CA10424881 |
954 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 955 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 956 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758821971 CA10424878 |
956 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 956 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1302476912 CA413357709 |
958 | R>* | No |
ClinGen TOPMed |
|
|
CA10424877 rs750940208 |
958 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397832644 CA413357706 |
959 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 960 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with P98174
[MIM: 305400]: Aarskog-Scott syndrome (AAS)
An X-linked recessive, rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest intellectual disability, attention deficit disorder and hyperactivity. {ECO:0000269|PubMed:10930571, ECO:0000269|PubMed:11093277, ECO:0000269|PubMed:14560308}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An X-linked recessive, rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest intellectual disability, attention deficit disorder and hyperactivity. {ECO:0000269|PubMed:10930571, ECO:0000269|PubMed:11093277, ECO:0000269|PubMed:14560308}. Note=The disease is caused by variants affecting the gene represented in this entry.
7 regional properties for P98174
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Dbl homology (DH) domain | 373 - 561 | IPR000219 |
| domain | FYVE zinc finger | 722 - 791 | IPR000306 |
| domain | Pleckstrin homology domain | 590 - 691 | IPR001849-1 |
| domain | Pleckstrin homology domain | 821 - 923 | IPR001849-2 |
| domain | Zinc finger, FYVE-related | 730 - 790 | IPR017455 |
| domain | FGD1, N-terminal PH domain | 591 - 698 | IPR035939 |
| domain | FGD1-4, C-terminal PH domain | 815 - 920 | IPR035941 |
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
| metal ion binding | Binding to a metal ion. |
| small GTPase binding | Binding to a small monomeric GTPase. |
8 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. |
| animal organ morphogenesis | Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. |
| 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. |
| filopodium assembly | The assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone. |
| regulation of cell shape | Any process that modulates the surface configuration of a cell. |
| regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
| regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
| 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. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5JSP0 | FGD3 | FYVE, RhoGEF and PH domain-containing protein 3 | Homo sapiens (Human) | PR |
| Q7Z6J4 | FGD2 | FYVE, RhoGEF and PH domain-containing protein 2 | Homo sapiens (Human) | PR |
| P52734 | Fgd1 | FYVE, RhoGEF and PH domain-containing protein 1 | Mus musculus (Mouse) | PR |
| Q8BY35 | Fgd2 | FYVE, RhoGEF and PH domain-containing protein 2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHGHRAPGGA | GPSEPEHPAT | NPPGAAPPAC | ADSDPGASEP | GLLARRGSGS | ALGGPLDPQF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VGPSDTSLGA | APGHRVLPCG | PSPQHHRALR | FSYHLEGSQP | RPGLHQGNRI | LVKSLSLDPG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QSLEPHPEGP | QRLRSDPGPP | TETPSQRPSP | LKRAPGPKPQ | VPPKPSYLQM | PRMPPPLEPI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PPPPSRPLPA | DPRVAKGLAP | RAEASPSSAA | VSSLIEKFER | EPVIVASDRP | VPGPSPGPPE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PVMLPQPTSQ | PPVPQLPEGE | ASRCLFLLAP | GPRDGEKVPN | RDSGIDSISS | PSNSEETCFV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SDDGPPSHSL | CPGPPALASV | PVALADPHRP | GSQEVDSDLE | EEDDEEEEEE | KDREIPVPLM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ERQESVELTV | QQKVFHIANE | LLQTEKAYVS | RLHLLDQVFC | ARLLEEARNR | SSFPADVVHG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IFSNICSIYC | FHQQFLLPEL | EKRMEEWDRY | PRIGDILQKL | APFLKMYGEY | VKNFDRAVEL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VNTWTERSTQ | FKVIIHEVQK | EEACGNLTLQ | HHMLEPVQRI | PRYELLLKDY | LLKLPHGSPD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SKDAQKSLEL | IATAAEHSNA | AIRKMERMHK | LLKVYELLGG | EEDIVSPTKE | LIKEGHILKL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SAKNGTTQDR | YLILFNDRLL | YCVPRLRLLG | QKFSVRARID | VDGMELKESS | NLNLPRTFLV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SGKQRSLELQ | ARTEEEKKDW | VQAINSTLLK | HEQTLETFKL | LNSTNREDED | TPPNSPNVDL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GKRAPTPIRE | KEVTMCMRCQ | EPFNSITKRR | HHCKACGHVV | CGKCSEFRAR | LVYDNNRSNR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VCTDCYVALH | GVPGSSPACS | QHTPQRRRSI | LEKQASVAAE | NSVICSFLHY | MEKGGKGWHK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| AWFVVPENEP | LVLYIYGAPQ | DVKAQRSLPL | IGFEVGPPEA | GERPDRRHVF | KITQSHLSWY |
| 910 | 920 | 930 | 940 | 950 | 960 |
| FSPETEELQR | RWMAVLGRAG | RGDTFCPGPT | LSEDREMEEA | PVAALGATAE | PPESPQTRDK |
| T |