Q15526
PR
Gene name |
SURF1 (SURF-1) |
Protein name |
Surfeit locus protein 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6834 |
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 Q15526
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q15526-F1 | Predicted | AlphaFoldDB |
357 variants for Q15526
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs863224229 RCV000258857 RCV002492908 RCV000199102 |
1 | M>missing | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000196753 RCV002517262 rs587727919 RCV001853201 CA321173 |
6 | A>V | Leigh syndrome Inborn genetic diseases [ClinVar] | Yes |
1000Genomes TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs1588693841 RCV003224500 RCV000988284 |
10 | G>missing | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001853202 rs863224224 CA323176 RCV000198640 |
14 | A>T | Leigh syndrome [ClinVar] | Yes |
TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs1410388157 RCV000543189 |
16 | L>missing | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1295640591 CA375695023 RCV001320225 |
33 | P>A | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000555174 rs781831910 CA200833558 |
40 | R>W | Leigh syndrome [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs116779216 RCV001844045 RCV000424363 CA293821 VAR_068648 RCV001080443 |
56 | A>G | Leigh syndrome MC4DN1; benign variant [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001193158 rs1433471292 |
62 | L>missing | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782125974 RCV000704099 CA200833513 |
62 | L>R | Leigh syndrome [ClinVar] | Yes |
TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000264670 CA200833481 RCV001354540 RCV000507001 RCV003168574 rs147993882 CA10629377 |
71 | V>L | Leigh syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs1244071473 RCV000988283 CA375694727 |
79 | W>* | Leigh syndrome [ClinVar] | Yes |
TOPMed ClinGen ClinVar dbSNP |
|
rs1554768709 CA375694714 RCV000623972 |
80 | Q>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001071486 rs782044026 |
84 | R>P | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16605654 VAR_068649 RCV000437222 RCV001379593 rs782024654 |
90 | L>P | Leigh syndrome Variant assessed as Somatic; impact. MC4DN1 [ClinVar, NCI-TCGA, UniProt] | Yes |
TOPMed ClinGen ClinVar UniProt NCI-TCGA dbSNP |
|
RCV000797278 rs1588691786 |
94 | L>missing | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002478694 RCV000197023 RCV000235063 RCV000013596 VAR_083393 rs863224228 |
105 | L>missing | Cytochrome-c oxidase deficiency disease Leigh syndrome MC4DN1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000512891 RCV002289700 RCV003128406 RCV003147496 rs764928653 |
105 | L>missing | Cytochrome-c oxidase deficiency disease Charcot-Marie-Tooth disease type 4K [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863224228 VAR_083393 |
105 | L>del | MC4DN1; unknown pathological significance [UniProt] | Yes |
UniProt dbSNP |
|
rs863224226 RCV001168781 RCV000196614 CA321038 RCV002478693 |
108 | D>N | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001350015 rs1189141759 CA375694510 |
110 | M>T | Leigh syndrome [ClinVar] | Yes |
TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs782754332 RCV001168780 CA200833088 |
110 | M>V | Leigh syndrome [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs146580899 CA200833084 RCV001350237 |
114 | N>K | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs145615218 RCV000224641 CA10581416 RCV000631403 |
117 | Y>S | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201492662 RCV000323407 CA10629368 |
118 | R>W | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_007450 RCV000013606 rs28933402 RCV001851829 CA122697 |
124 | G>E | Cytochrome-c oxidase deficiency disease Leigh syndrome MC4DN1; reduced protein stability [ClinVar, UniProt] | Yes |
Ensembl ClinGen ClinVar UniProt dbSNP |
|
rs782033035 VAR_015258 CA200833060 |
124 | G>R | MC4DN1 [UniProt] | Yes |
ExAC gnomAD ClinGen UniProt dbSNP |
|
rs1836501449 RCV001336023 |
126 | F>L | Charcot-Marie-Tooth disease type 4K [ClinVar] | Yes |
ClinVar dbSNP |
|
rs373551988 RCV001168010 RCV002485308 RCV000200389 CA324957 |
137 | R>W | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001229292 rs1227317118 CA375694328 |
138 | T>P | Leigh syndrome [ClinVar] | Yes |
TOPMed ClinGen ClinVar dbSNP |
|
RCV001168009 rs140443050 CA200833019 |
146 | A>V | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA200833015 RCV001050771 rs151258319 |
147 | R>W | Leigh syndrome [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000754104 rs1564349176 |
156 | T>missing | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001343258 CA200832957 rs373251271 |
167 | H>R | Leigh syndrome [ClinVar] | Yes |
Ensembl ClinGen ClinVar dbSNP |
|
rs1564349087 CA375694143 RCV000785948 |
168 | C>* | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_068650 | 177 | V>G | MC4DN1 [UniProt] | Yes | UniProt |
|
RCV000498201 RCV002469177 rs1242159511 |
178 | N>missing | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057517942 RCV001290556 RCV000414638 |
178 | N>missing | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000754103 VAR_083394 rs587753385 CA375694077 |
178 | N>Y | Leigh syndrome MC4DN1; unknown pathological significance; reduces protein stability; impairs complex IV assembly [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV000013602 rs1588689993 |
184 | R>missing | Cytochrome-c oxidase deficiency disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001291661 rs1836463353 |
184 | R>missing | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001580563 rs1363125797 RCV001051443 |
186 | K>missing | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002222439 RCV000196814 rs200702528 RCV002517263 CA321229 RCV001215689 |
188 | N>S | Leigh syndrome Inborn genetic diseases Leigh syndrome (ls) [ClinVar, Ensembl] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000478177 RCV001193160 rs782289759 RCV002272252 |
192 | R>missing | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000202523 rs782190413 VAR_076315 RCV000631410 RCV000199387 RCV002492907 CA215067 |
192 | R>W | Cytochrome-c oxidase deficiency disease Leigh syndrome Charcot-Marie-Tooth disease type 4K CMT4K; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA10584085 RCV000235079 rs147816470 RCV000578885 |
196 | Q>* | Leigh syndrome Leigh syndrome (ls) [ClinVar, Ensembl] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001338755 rs1836456450 |
199 | G>E | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_007451 RCV000999265 RCV000394086 rs72619327 CA293830 RCV000128342 |
202 | D>H | Leigh syndrome [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
| VAR_068651 | 205 | G>E | MC4DN1 [UniProt] | Yes | UniProt |
|
rs1836455088 RCV001167393 |
210 | T>I | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000587221 rs1554768333 |
211 | E>missing | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000367139 rs147165855 CA10629367 |
215 | P>A | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000022780 rs398122806 VAR_068682 CA128719 |
227 | W>R | Cytochrome-c oxidase deficiency disease MC4DN1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000321649 RCV000631405 rs782623477 CA10603164 |
230 | R>* | Leigh syndrome Leigh syndrome (ls) [ClinVar, Ensembl] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
VAR_068652 rs1319811735 CA375693695 |
235 | M>T | MC4DN1 [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV001167392 rs781807153 CA200832355 |
236 | A>T | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_007452 | 246 | I>T | MC4DN1 [UniProt] | Yes | UniProt |
|
CA200832325 RCV000631408 rs782480169 |
246 | I>V | Leigh syndrome Leigh syndrome (ls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_068653 | 248 | A>D | MC4DN1 [UniProt] | Yes | UniProt |
|
RCV001699229 RCV000699472 CA322228 rs587669420 |
249 | N>D | Leigh syndrome Leigh syndrome (ls) [ClinVar, Ensembl] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs782109120 RCV001298240 CA200832316 COSM1267048 |
250 | F>L | Leigh syndrome oesophagus [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000599426 rs121918657 RCV000013599 RCV000589222 CA122692 |
251 | Q>* | Cytochrome-c oxidase deficiency disease Leigh syndrome Leigh syndrome (ls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000586290 RCV001849366 RCV002244861 RCV000413343 rs782349178 |
253 | T>missing | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000560693 rs1554768246 |
254 | V>missing | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_068654 | 257 | G>R | MC4DN1 [UniProt] | Yes | UniProt |
|
VAR_083395 CA200832098 rs1030336089 |
257 | G>V | MC4DN1 [UniProt] | Yes |
TOPMed ClinGen UniProt dbSNP |
|
RCV000754102 rs1053850536 CA200832091 VAR_083396 |
258 | P>S | Leigh syndrome MC4DN1; unknown pathological significance; reduces protein stability; impairs complex IV assembly [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV002517264 RCV000198901 RCV001813769 rs782490558 RCV000534608 RCV000013605 |
264 | R>missing | Cytochrome-c oxidase deficiency disease Leigh syndrome Charcot-Marie-Tooth disease type 4K Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000790941 rs1588688823 |
266 | T>missing | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001804940 rs864309500 RCV000202439 |
267 | L>missing | Leigh syndrome Charcot-Marie-Tooth disease type 4K [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059308 rs781880723 CA200832053 |
268 | R>S | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1836430953 RCV001261540 RCV001260238 |
270 | E>missing | Cytochrome-c oxidase deficiency disease Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002489153 RCV000484632 rs782788600 |
270 | E>missing | Cytochrome-c oxidase deficiency disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689337 VAR_083397 rs782161777 |
270 | E>EHLQYE | Leigh syndrome MC4DN1; unknown pathological significance; reduces protein stability; impairs complex IV assembly; [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs781924765 RCV002533180 CA200832046 RCV000631404 |
270 | E>K | Leigh syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs782488388 RCV000196024 RCV001824677 RCV000820421 |
271 | H>missing | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000662037 RCV001090695 rs1554768224 RCV000662036 |
272 | L>missing | Leigh syndrome Charcot-Marie-Tooth disease type 4K [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121918658 CA122695 VAR_015259 RCV000013603 |
274 | Y>D | Cytochrome-c oxidase deficiency disease MC4DN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1050473947 RCV000799005 CA200832026 |
275 | I>L | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001215424 rs1220688120 |
276 | V>missing | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000623467 rs141561701 RCV001248476 CA200832020 |
276 | V>M | Leigh syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs782601312 RCV001193157 CA200831946 |
278 | W>* | Leigh syndrome Leigh syndrome (ls) [ClinVar, Ensembl] | Yes |
ExAC gnomAD ClinGen ClinVar dbSNP |
|
RCV001165819 CA200831944 rs587758543 |
279 | Y>C | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs782316919 RCV000013608 RCV000500935 RCV000197896 RCV000626844 RCV000331329 RCV002251902 RCV000624533 |
282 | S>missing | Cytochrome-c oxidase deficiency disease Leigh syndrome Cerebellar ataxia Inborn genetic diseases Leigh syndrome due to mitochondrial complex IV deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001336545 CA200831929 rs781902619 |
284 | A>T | Leigh syndrome [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs782061187 RCV002248820 RCV000622343 RCV003155251 |
291 | K>* | Cytochrome-c oxidase deficiency disease Leigh syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000586110 CA16605399 RCV001084113 rs147312193 RCV000439404 |
295 | R>C | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA200831885 rs369247238 RCV001351957 |
295 | R>L | Leigh syndrome [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV002515441 rs782620122 RCV000199642 CA324187 |
297 | T>P | Leigh syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000631407 CA200831870 rs201822068 RCV002528853 |
298 | P>R | Leigh syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000588103 rs782010013 RCV000801485 |
300 | V>missing | Leigh syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782746186 RCV002537681 RCV001265892 |
300 | V>M | Leigh syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1330020241 CA375695211 |
2 | A>V | No |
TOPMed ClinGen |
|
|
rs966145163 CA375695207 |
3 | A>G | No |
TOPMed gnomAD ClinGen |
|
|
CA375695209 rs1427018935 |
3 | A>T | No |
gnomAD ClinGen |
|
|
rs966145163 CA200834131 |
3 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1169550986 CA375695205 |
4 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1036166861 CA200834126 |
5 | A>D | No |
TOPMed ClinGen |
|
|
rs587727919 RCV000781905 CA375695191 |
6 | A>E | No |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
|
rs587727919 CA375695190 |
6 | A>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1005430150 CA200834121 |
8 | Q>P | No |
TOPMed ClinGen |
|
|
CA375695165 rs1173342000 |
10 | G>V | No |
ClinGen gnomAD |
|
|
CA200834118 rs782241588 |
12 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1158938384 CA375695153 |
13 | A>S | No |
TOPMed ClinGen |
|
|
CA200834112 rs782648467 |
13 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA375695146 rs1237462342 |
14 | A>V | No |
TOPMed ClinGen |
|
|
rs1050504855 CA200834101 |
15 | G>R | No |
TOPMed ClinGen |
|
|
CA200834098 rs782568320 |
17 | G>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1198253408 CA375695129 |
18 | R>W | No |
gnomAD ClinGen |
|
|
CA200834053 rs980771108 |
19 | A>V | No |
ClinGen TOPMed |
|
|
rs1379526999 CA375695107 |
20 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA200834051 rs782764509 |
20 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs1359866215 CA375695101 |
21 | A>S | No |
ClinGen gnomAD |
|
|
rs1287076194 CA375695084 |
23 | A>G | No |
TOPMed gnomAD ClinGen |
|
|
rs782136711 CA200834049 |
24 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA375695075 rs1187982748 |
25 | W>* | No |
ClinGen gnomAD |
|
|
CA375695072 rs1302110880 |
25 | W>C | No |
ClinGen TOPMed |
|
|
rs1474056547 CA375695077 |
25 | W>R | No |
gnomAD ClinGen |
|
|
CA200834047 rs979309720 |
27 | S>G | No |
gnomAD ClinGen |
|
|
rs1416119624 CA375695056 |
27 | S>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1258493998 CA375695043 |
30 | R>G | No |
ClinGen gnomAD |
|
|
rs1478372022 CA375695041 |
30 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA375695040 rs1478372022 |
30 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1588693481 CA375695034 |
31 | V>F | No |
ClinGen Ensembl |
|
|
rs1227831763 CA375695027 |
32 | S>F | No |
ClinGen TOPMed |
|
|
rs1482980382 CA375695013 |
34 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1467999019 CA375694990 |
37 | V>M | No |
ClinGen gnomAD |
|
|
rs782747752 CA200833556 |
40 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1238263850 CA375694948 |
43 | R>K | No |
TOPMed ClinGen |
|
|
rs782013799 CA200833552 |
44 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA200833550 rs77188682 |
46 | S>R | No |
ExAC gnomAD ClinGen |
|
|
rs200000393 CA200833547 |
51 | A>P | No |
1000Genomes gnomAD ClinGen |
|
|
CA200833539 rs782073457 |
53 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs781958165 CA200833533 |
54 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA200833536 rs782690817 |
54 | T>S | No |
Ensembl ClinGen |
|
| TCGA novel | 56 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs116779216 CA200833529 |
56 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA200833523 rs782410389 |
57 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA375694856 rs1333663259 |
58 | D>Y | No |
ClinGen gnomAD |
|
|
rs1588692111 CA375694847 |
59 | D>A | No |
Ensembl ClinGen |
|
|
CA200833521 rs782301641 |
60 | S>C | No |
ExAC gnomAD ClinGen |
|
|
CA200833515 rs782453666 |
62 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
| TCGA novel | 63 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375694816 rs1159375387 |
64 | W>R | No |
TOPMed gnomAD ClinGen |
|
|
rs899048564 CA200833507 |
65 | V>I | No |
TOPMed ClinGen |
|
|
rs1362230021 CA375694800 |
66 | L>P | No |
gnomAD ClinGen |
|
|
CA200833501 rs782505234 |
67 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA375694791 rs1208625545 |
68 | L>F | No |
ClinGen gnomAD |
|
|
rs782548964 CA200833494 |
69 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs781953110 CA200833488 |
70 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA375694775 rs1422504332 |
71 | V>A | No |
ClinGen TOPMed |
|
|
rs1170189238 CA375694771 |
72 | T>A | No |
ClinGen TOPMed |
|
|
CA375694767 rs1245071367 |
72 | T>I | No |
ClinGen gnomAD |
|
|
CA375694746 rs782036327 |
76 | L>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA200833477 rs782036327 |
76 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200833472 rs992490081 |
77 | G>E | No |
TOPMed gnomAD ClinGen |
|
|
rs782309336 CA200833469 |
78 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277128719 CA375694724 |
79 | W>* | No |
TOPMed ClinGen |
|
|
CA200833380 rs782754482 |
81 | V>F | No |
ExAC gnomAD ClinGen |
|
|
rs1243697560 CA375694699 |
82 | Q>K | No |
ClinGen gnomAD |
|
|
rs782134405 CA200833377 |
83 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA375694688 rs1370356387 |
83 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM1228026 CA200833370 rs782044026 |
84 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs374365243 CA200833372 |
84 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs781958777 CA200833368 |
85 | K>M | No |
ClinGen ExAC gnomAD |
|
| VAR_036340 | 89 | N>K | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA200833361 rs782115006 |
91 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA200833359 rs782000943 |
93 | E>A | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 95 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375694588 rs1233783877 |
99 | L>V | No |
gnomAD ClinGen |
|
|
rs782402465 CA200833349 |
102 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375694566 rs1427694247 |
102 | P>L | No |
TOPMed ClinGen |
|
|
RCV001268280 rs1836519031 |
105 | L>missing | No |
ClinVar dbSNP |
|
|
RCV000513441 rs759270179 RCV003128413 |
105 | L>missing | No |
ClinVar dbSNP |
|
|
CA375694550 rs1301409627 |
105 | L>P | No |
gnomAD ClinGen |
|
|
rs149440185 CA200833342 |
106 | P>S | No |
ESP ClinGen |
|
|
rs1836518719 RCV001268278 |
107 | A>missing | No |
ClinVar dbSNP |
|
|
rs1836518975 RCV001268279 |
107 | A>S | No |
ClinVar dbSNP |
|
|
CA200833339 rs145122132 |
107 | A>V | No |
ClinGen ESP |
|
|
CA375694537 rs863224226 |
108 | D>H | No |
TOPMed ClinGen |
|
|
CA375694511 rs1189141759 |
110 | M>K | No |
TOPMed gnomAD ClinGen |
|
|
CA200833085 rs782811025 |
112 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 113 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188807957 CA375694473 |
116 | E>* | No |
gnomAD ClinGen |
|
|
CA200833077 rs782735198 |
116 | E>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1018457058 CA200833082 |
116 | E>G | No |
gnomAD ClinGen |
|
|
rs145615218 CA375694463 |
117 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201492662 CA200833073 |
118 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1274077426 CA375694459 |
118 | R>K | No |
gnomAD ClinGen |
|
|
rs1232403463 CA375694448 |
120 | V>M | No |
gnomAD ClinGen |
|
|
rs1216359980 CA375694430 |
122 | V>G | No |
ClinGen gnomAD |
|
|
CA200833062 rs968051483 |
123 | R>S | No |
TOPMed ClinGen |
|
|
CA200833051 rs994202133 |
125 | C>W | No |
ClinGen Ensembl |
|
|
CA200833049 rs782197597 |
127 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs863224230 CA322599 RCV000198114 |
127 | D>AY | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 127 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375694348 rs1564349310 |
134 | M>I | No |
ClinGen Ensembl |
|
|
CA200833043 rs898493801 |
136 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA200833041 rs782268841 |
137 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375694317 rs1199163776 |
139 | M>I | No |
Ensembl ClinGen |
|
|
CA200833039 rs199644890 |
139 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1429682818 CA375694302 |
141 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 142 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200833036 rs782564501 |
142 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1035484769 CA200833033 |
143 | V>I | No |
ClinGen TOPMed |
|
|
rs1469895982 CA375694287 |
144 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA200833031 rs782184512 |
144 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782387264 | 146 | A>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781837639 CA200833013 |
147 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs886950520 CA200833009 |
148 | E>D | No |
ClinGen TOPMed |
|
|
CA200833008 rs782632573 |
149 | G>S | No |
ExAC gnomAD ClinGen |
|
|
rs1371101979 CA375694258 |
150 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
CA200832997 rs782801175 |
151 | L>F | No |
ExAC gnomAD ClinGen |
|
|
CA200833000 rs782801175 |
151 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs1564349210 CA375694246 |
152 | I>F | No |
Ensembl ClinGen |
|
|
CA375694230 rs1392714895 |
154 | S>F | No |
gnomAD ClinGen |
|
|
CA375694228 rs1462843748 |
155 | S>A | No |
ClinGen gnomAD |
|
|
rs1481451113 CA375694225 |
155 | S>L | No |
ClinGen TOPMed |
|
|
rs1455590753 CA375694219 |
156 | T>S | No |
gnomAD ClinGen |
|
|
CA375694197 rs1252362298 |
159 | G>E | No |
gnomAD ClinGen |
|
|
rs369707095 CA200832982 |
159 | G>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs200358116 CA200832976 |
161 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375694186 rs200358116 |
161 | Y>F | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs782162506 CA200832970 |
163 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA200832964 rs782214884 |
164 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1588690912 CA375694172 |
164 | T>P | No |
Ensembl ClinGen |
|
|
CA200832965 rs782214884 |
164 | T>S | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 165 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200832961 rs1055656635 |
166 | F>C | No |
ClinGen TOPMed |
|
|
CA200832959 rs375611305 |
166 | F>L | No |
ClinGen ESP gnomAD |
|
|
CA200832949 rs587683200 |
170 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1554186 CA200832952 rs782358655 |
170 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA200832943 rs782546713 |
172 | G>E | No |
ExAC gnomAD ClinGen |
|
|
CA375694124 rs1396233239 |
172 | G>R | No |
gnomAD ClinGen |
|
|
rs1383003525 CA375694097 |
174 | T>I | No |
TOPMed gnomAD ClinGen |
|
|
CA200832526 rs587753385 |
178 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1476378798 CA375694073 |
178 | N>K | No |
ClinGen gnomAD |
|
|
rs1588690025 CA375694067 |
179 | R>K | No |
ClinGen Ensembl |
|
|
rs1444801979 CA375694064 |
180 | G>R | No |
gnomAD ClinGen |
|
|
rs62637580 CA375694051 |
181 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1254427424 CA375694057 |
181 | F>L | No |
ClinGen gnomAD |
|
|
rs782638354 CA200832517 |
182 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782765995 CA200832514 |
183 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782141120 CA200832512 |
184 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1342038833 CA375694035 |
184 | R>S | No |
gnomAD ClinGen |
|
|
rs782141120 CA375694038 |
184 | R>T | No |
ExAC gnomAD ClinGen |
|
|
rs587617657 CA200832508 |
185 | K>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1457491848 CA375694019 |
187 | V>M | No |
ClinGen TOPMed |
|
|
rs1441993636 CA375694005 |
189 | P>A | No |
gnomAD ClinGen |
|
|
rs587765926 CA200832505 |
191 | T>I | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA200832499 rs782021521 |
192 | R>Q | Leigh syndrome (ls) [Ensembl] | No |
ClinGen ExAC TOPMed |
|
CA200832497 rs782420522 RCV000999266 |
193 | Q>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1466795045 CA375693980 |
193 | Q>L | No |
TOPMed ClinGen |
|
|
rs1193858183 CA375693964 |
195 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA200832421 rs782169439 |
197 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA200832414 rs781841918 |
199 | G>R | No |
ExAC gnomAD ClinGen |
|
|
COSM1636073 CA375693916 rs1471826077 |
201 | V>A | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA375693914 rs1471826077 |
201 | V>G | No |
ClinGen gnomAD |
|
|
CA200832407 rs72619327 |
202 | D>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1485382956 CA375693905 |
203 | L>F | No |
gnomAD ClinGen |
|
|
rs782706864 CA200832405 |
203 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs781825745 CA200832397 |
204 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA200832400 rs781825745 |
204 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA375693899 rs1209784974 |
204 | I>S | No |
ClinGen TOPMed |
|
|
rs1283853511 CA375693868 |
209 | L>V | No |
ClinGen gnomAD |
|
|
rs1336678903 CA375693854 |
211 | E>G | No |
TOPMed gnomAD ClinGen |
|
|
CA200832390 rs782122225 |
214 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
rs782011484 CA200832385 |
215 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs147165855 CA375693829 |
215 | P>S | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs147165855 CA375693830 |
215 | P>T | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs914887253 CA200832382 |
217 | V>A | No |
ClinGen TOPMed |
|
|
rs1430863286 CA375693810 |
218 | P>L | No |
gnomAD ClinGen |
|
|
CA375693802 rs1222975395 |
219 | E>V | No |
gnomAD ClinGen |
|
|
rs1432236286 CA375693784 |
221 | N>K | No |
ClinGen TOPMed |
|
|
rs1318138043 CA375693781 |
222 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
CA200832378 rs377275319 |
223 | E>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs781916168 CA200832375 |
224 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs1057520688 RCV000440906 CA16605403 |
227 | W>* | No |
Ensembl ClinGen ClinVar dbSNP |
|
|
CA200832371 rs782320606 |
228 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1188309187 CA375693724 |
230 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA200832368 rs782373988 |
231 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs971274784 CA200832364 |
233 | E>Q | No |
TOPMed gnomAD ClinGen |
|
|
rs782685543 CA375693703 |
234 | A>P | No |
ExAC gnomAD ClinGen |
|
|
rs782685543 CA200832360 |
234 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs782437393 CA200832358 |
235 | M>L | No |
ExAC gnomAD ClinGen |
|
|
rs782437393 CA375693698 |
235 | M>V | No |
ExAC gnomAD ClinGen |
|
|
rs1368492782 CA375693687 |
236 | A>G | No |
TOPMed ClinGen |
|
|
rs782502883 CA200832350 |
237 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs1318116962 CA375693674 |
238 | I>S | No |
ClinGen gnomAD |
|
|
CA375693663 rs781858979 |
240 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781858979 CA200832347 |
240 | G>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782157083 CA200832342 |
241 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781896611 CA200832340 |
241 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs994136015 CA200832335 |
242 | E>A | No |
TOPMed ClinGen |
|
|
rs587745216 CA200832330 |
243 | P>H | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs963703194 CA200832333 |
243 | P>S | No |
ClinGen TOPMed |
|
|
CA375693642 rs1477461169 |
244 | I>T | No |
ClinGen TOPMed |
|
|
CA375693612 rs1455779938 |
248 | A>V | No |
gnomAD ClinGen |
|
|
rs1208965322 CA375693606 |
249 | N>K | No |
gnomAD ClinGen |
|
|
CA375693571 rs1249448018 |
253 | T>A | No |
gnomAD ClinGen |
|
|
rs782022661 CA200832109 |
253 | T>R | No |
ExAC gnomAD ClinGen |
|
|
CA200832104 rs782579479 |
255 | P>H | No |
ExAC gnomAD ClinGen |
|
|
CA200832103 rs782579479 |
255 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs1198344451 CA375693559 |
255 | P>S | No |
gnomAD ClinGen |
|
|
CA375693547 rs1030336089 |
257 | G>A | No |
TOPMed ClinGen |
|
|
CA375693548 rs1030336089 |
257 | G>E | No |
ClinGen TOPMed |
|
|
rs1131691894 RCV000493316 |
258 | P>missing | No |
ClinVar dbSNP |
|
|
rs139022243 CA200832086 |
259 | I>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1245524857 CA375693540 |
259 | I>V | No |
ClinGen TOPMed |
|
|
CA200832080 rs782509657 |
260 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA375693531 rs782509657 |
260 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs782575014 CA200832083 |
260 | G>V | No |
ClinGen ExAC |
|
|
CA375693528 rs1332891914 |
261 | G>E | No |
TOPMed ClinGen |
|
|
rs782802741 CA200832073 |
261 | G>R | No |
ClinGen ExAC |
|
|
rs782265589 CA200832070 |
262 | Q>C | No |
ClinGen ExAC |
|
|
CA200832068 rs782467224 |
262 | Q>R | No |
ClinGen ExAC |
|
|
rs782686762 CA200832065 |
263 | T>R | No |
ExAC ClinGen |
|
|
CA375693511 rs1416690474 |
264 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs781827363 CA200832060 |
264 | R>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000627562 rs1554768236 |
266 | T>missing | No |
ClinVar dbSNP |
|
|
CA375693499 rs1456506504 |
266 | T>A | No |
gnomAD ClinGen |
|
|
CA375693497 rs1424910473 |
266 | T>I | No |
TOPMed ClinGen |
|
|
CA200832056 rs782751238 |
267 | L>P | No |
ExAC gnomAD ClinGen |
|
|
CA375693481 rs782811834 |
269 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA200832052 rs782811834 |
269 | N>S | No |
ExAC gnomAD ClinGen |
|
|
rs782811834 CA200832051 |
269 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1564347268 CA375693469 |
271 | H>Y | No |
Ensembl ClinGen |
|
|
CA200832041 rs782315978 |
272 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200832039 rs782076866 |
273 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA200832031 rs781967825 |
274 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA375693446 rs1050473947 |
275 | I>F | No |
Ensembl ClinGen |
|
|
rs1050473947 CA200832023 |
275 | I>V | No |
Ensembl ClinGen |
|
|
rs141561701 CA200832018 |
276 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 278 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200831942 rs587758543 |
279 | Y>F | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1272896177 CA375693400 |
281 | L>H | No |
ClinGen gnomAD |
|
|
rs782192449 CA200831939 |
281 | L>V | No |
ClinGen gnomAD |
|
|
rs782766438 CA375693394 |
282 | S>C | No |
ExAC gnomAD ClinGen |
|
|
CA200831936 rs782766438 |
282 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1444150497 CA375693396 |
282 | S>P | No |
ClinGen gnomAD |
|
|
rs139025632 CA200831932 |
283 | A>T | No |
ClinGen ESP TOPMed |
|
|
CA200831927 rs782699285 |
285 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782086314 CA200831920 |
286 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200841752 CA200831913 |
288 | L>Q | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs200841752 CA200831910 |
288 | L>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs373591762 CA200831900 |
289 | W>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 291 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs889404521 CA200831894 |
291 | K>Q | No |
Ensembl ClinGen |
|
|
CA375693338 rs1382026029 |
292 | K>Q | No |
ClinGen TOPMed |
|
|
CA200831887 rs369247238 |
295 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147312193 CA375693317 |
295 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 296 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225199430 CA375693305 |
297 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs782269669 CA375693303 |
298 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs782269669 CA200831873 |
298 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs782438907 CA200831868 |
299 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA200831859 rs782746186 CA200831858 |
300 | V>L | No |
ClinGen ExAC |
2 associated diseases with Q15526
[MIM: 220110]: Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1)
An autosomal recessive disorder of the mitochondrial respiratory chain characterized by early-onset, rapidly progressive encephalopathy, neurodegeneration, and loss of motor and cognitive skills. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, poor eye contact, oculomotor abnormalities, as well as deafness, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia. Lactate levels in serum and cerebrospinal fluid are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death in childhood may occur, often due to central respiratory failure. {ECO:0000269|PubMed:10647889, ECO:0000269|PubMed:10746561, ECO:0000269|PubMed:14564068, ECO:0000269|PubMed:16120373, ECO:0000269|PubMed:21937992, ECO:0000269|PubMed:22410471, ECO:0000269|PubMed:22488715, ECO:0000269|PubMed:26443249, ECO:0000269|PubMed:29715184, ECO:0000269|PubMed:29933018, ECO:0000269|PubMed:9843204}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616684]: Charcot-Marie-Tooth disease 4K (CMT4K)
An autosomal recessive, demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
Without disease ID
- An autosomal recessive disorder of the mitochondrial respiratory chain characterized by early-onset, rapidly progressive encephalopathy, neurodegeneration, and loss of motor and cognitive skills. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, poor eye contact, oculomotor abnormalities, as well as deafness, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia. Lactate levels in serum and cerebrospinal fluid are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death in childhood may occur, often due to central respiratory failure. {ECO:0000269|PubMed:10647889, ECO:0000269|PubMed:10746561, ECO:0000269|PubMed:14564068, ECO:0000269|PubMed:16120373, ECO:0000269|PubMed:21937992, ECO:0000269|PubMed:22410471, ECO:0000269|PubMed:22488715, ECO:0000269|PubMed:26443249, ECO:0000269|PubMed:29715184, ECO:0000269|PubMed:29933018, ECO:0000269|PubMed:9843204}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive, demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
No regional properties for Q15526
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q15526 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| mitochondrial respirasome | The protein complexes that form the mitochondrial electron transport system (the respiratory chain), associated with the inner mitochondrial membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| cytochrome-c oxidase activity | Catalysis of the reaction: 4 ferrocytochrome c + O2 + 4 H+ = 4 ferricytochrome c + 2 H2O. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| aerobic respiration | The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor. |
| mitochondrial cytochrome c oxidase assembly | The aggregation, arrangement and bonding together of a set of components to form respiratory chain complex IV (also known as cytochrome c oxidase) in the mitochondrial inner membrane. |
| respiratory chain complex IV assembly | The aggregation, arrangement and bonding together of a set of components to form respiratory chain complex IV (also known as cytochrome c oxidase), the terminal member of the respiratory chain of the mitochondrion and some aerobic bacteria. Cytochrome c oxidases are multi-subunit enzymes containing from 13 subunits in the mammalian mitochondrial form to 3-4 subunits in the bacterial forms. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAVAALQLG | LRAAGLGRAP | ASAAWRSVLR | VSPRPGVAWR | PSRCGSSAAE | ASATKAEDDS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FLQWVLLLIP | VTAFGLGTWQ | VQRRKWKLNL | IAELESRVLA | EPVPLPADPM | ELKNLEYRPV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KVRGCFDHSK | ELYMMPRTMV | DPVREAREGG | LISSSTQSGA | YVVTPFHCTD | LGVTILVNRG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FVPRKKVNPE | TRQKGQIEGE | VDLIGMVRLT | ETRQPFVPEN | NPERNHWHYR | DLEAMARITG |
| 250 | 260 | 270 | 280 | 290 | |
| AEPIFIDANF | QSTVPGGPIG | GQTRVTLRNE | HLQYIVTWYG | LSAATSYLWF | KKFLRGTPGV |