Q9H6K4
PR
Gene name |
OPA3 |
Protein name |
Optic atrophy 3 protein |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80207 |
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 Q9H6K4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H6K4-F1 | Predicted | AlphaFoldDB |
211 variants for Q9H6K4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000672282 rs1555736840 |
3 | V>missing | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001175256 rs1969907819 |
11 | L>Q | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771522612 CA9517493 RCV001003481 VAR_085736 |
15 | G>R | Foveal hypoplasia found in a family with foveal hypoplasia; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000760783 CA406378743 RCV001387584 rs1568413644 RCV001272532 |
18 | Q>* | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000709769 CA406378711 rs1343690502 |
19 | V>I | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000671538 CA406378673 rs1555736814 |
21 | K>* | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001323293 rs1302916174 |
26 | R>L | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001135786 RCV001135787 rs753632531 CA9517489 |
32 | R>S | 3-Methylglutaconic aciduria type 3 Optic atrophy 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000673633 rs1555736803 |
34 | S>missing | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001134311 COSM1740526 CA9517484 COSM1740527 RCV003132239 rs763083098 RCV001134312 RCV002482258 |
41 | I>M | 3-Methylglutaconic aciduria type 3 Optic atrophy 3 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001231595 rs1052079541 |
61 | M>T | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000670501 RCV002531253 rs1555732963 |
73 | E>missing | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886037828 CA10602400 RCV000258065 |
79 | L>V | Optic atrophy 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs186796646 RCV000197168 CA321609 RCV001828027 RCV002515419 |
81 | A>T | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000673502 rs1555732942 |
85 | G>missing | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000995826 rs1599964721 CA406371065 |
85 | G>D | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_033103 rs80356524 RCV000004462 CA340206 |
93 | G>S | Optic atrophy 3 OPA3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1969377552 RCV001336691 |
101 | Y>H | Optic atrophy 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs80356525 RCV000814602 CA340207 RCV001092423 RCV000004463 VAR_033104 |
105 | Q>E | 3-Methylglutaconic aciduria type 3 Optic atrophy 3 OPA3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs1599964564 RCV000812534 |
107 | Q>RRHQAQ | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000004464 rs80356526 |
108 | Q>missing | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000668021 rs1353357190 |
111 | K>missing | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000668412 rs1555732911 |
112 | E>missing | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA308958875 RCV001331379 rs1022155897 |
123 | R>W | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA9517398 RCV003130220 RCV001242449 RCV001835128 rs372161100 |
137 | Q>P | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001618493 CA9517397 RCV000280152 RCV000347087 RCV000962729 rs201574732 RCV000289846 |
138 | A>T | 3-Methylglutaconic aciduria type 3 Optic atrophy 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000020909 rs28937899 CA342399 |
139 | Q>* | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406370079 RCV001279350 rs1399150102 |
139 | Q>R | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000673960 rs1363616568 |
140 | V>missing | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001835440 CA308958795 rs553598004 RCV001301128 |
143 | A>V | 3-Methylglutaconic aciduria type 3 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1205708262 RCV000673038 |
144 | P>missing | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel RCV001309704 rs775398472 |
144 | P>Q | 3-Methylglutaconic aciduria type 3 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000674270 rs745544229 |
157 | Q>missing | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000727520 RCV001081928 CA9517386 rs137978109 |
160 | R>C | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs780492515 RCV000672143 CA9517381 RCV002532121 |
163 | L>F | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001857732 CA323636 rs374639297 RCV000199098 |
170 | A>T | 3-Methylglutaconic aciduria type 3 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs767372876 RCV000195966 CA320351 RCV001234655 |
178 | K>E | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1057516497 RCV000410015 CA16041985 |
180 | K>W | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001853188 rs774281852 CA323577 RCV000199038 |
180 | K>Y | 3-Methylglutaconic aciduria type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1289317629 CA406379053 |
4 | G>S | No |
ClinGen TOPMed |
|
|
CA308979281 rs749185315 |
5 | A>T | No |
ClinGen Ensembl |
|
|
CA9517500 rs373427314 |
7 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357831556 CA406378989 |
8 | M>L | No |
ClinGen TOPMed |
|
|
CA406378968 rs1458202119 |
9 | A>T | No |
ClinGen gnomAD |
|
|
CA406378936 RCV000493848 rs1131692018 |
10 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 11 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200742525 CA9517497 |
12 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9517492 rs745552499 |
16 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406378787 rs745552499 |
16 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406378766 rs1207839567 |
17 | R>W | No |
ClinGen gnomAD |
|
|
CA406378703 rs1343690502 |
19 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1600010221 CA406378694 |
19 | V>G | No |
ClinGen Ensembl |
|
|
rs1274823970 CA406378677 |
20 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9517490 rs757060614 |
22 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA406378560 COSM1218457 COSM1218456 rs1302916174 |
26 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA406378516 rs1600010161 |
29 | E>G | No |
ClinGen Ensembl |
|
|
CA308979247 rs913275853 |
30 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1167970218 CA406378476 |
31 | A>P | No |
ClinGen TOPMed |
|
|
CA406378474 rs1167970218 |
31 | A>S | No |
ClinGen TOPMed |
|
|
rs753632531 CA406378457 |
32 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9517488 rs777618441 |
32 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA406378448 rs1241537518 |
33 | R>* | No |
ClinGen gnomAD |
|
|
rs1301230201 CA406378428 |
34 | S>G | No |
ClinGen gnomAD |
|
|
rs1600010083 CA406378423 |
34 | S>N | No |
ClinGen Ensembl |
|
|
CA406378409 rs1411657600 |
34 | S>R | No |
ClinGen gnomAD |
|
|
CA406378344 rs1369263458 |
37 | F>L | No |
ClinGen TOPMed |
|
|
CA9517487 rs756044697 |
38 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 38 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1412172336 CA406378320 |
38 | K>R | No |
ClinGen TOPMed |
|
|
CA308979241 rs942993720 |
39 | T>A | No |
ClinGen TOPMed |
|
|
CA9517485 rs766584469 |
41 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA406378137 rs1480319743 |
45 | P>L | No |
ClinGen gnomAD |
|
|
rs1176992052 CA406378142 |
45 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406371449 rs1384629048 |
49 | Y>H | No |
ClinGen gnomAD |
|
|
rs747890876 CA9517450 |
51 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1599965077 CA406371419 |
51 | W>G | No |
ClinGen Ensembl |
|
|
CA9517449 rs781119036 |
54 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs755008161 CA9517448 |
55 | R>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1681135 CA406371390 rs748653611 |
55 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA406371386 rs1190038385 |
56 | T>A | No |
ClinGen gnomAD |
|
|
rs778885990 CA9517446 |
56 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs890145652 CA308959126 |
57 | K>R | No |
ClinGen Ensembl |
|
|
rs1283375146 CA406371368 |
58 | M>I | No |
ClinGen gnomAD |
|
|
CA9517445 rs757323736 |
60 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA308959120 rs1052079541 |
61 | M>K | No |
ClinGen Ensembl |
|
|
rs764320249 CA9517443 |
64 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs754011378 CA9517444 |
64 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA406371313 rs144382886 |
65 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA406371310 rs144382886 |
65 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9517442 rs144382886 |
65 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9517441 rs753129998 |
66 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA406371288 rs1326070506 |
67 | V>D | No |
ClinGen gnomAD |
|
|
rs1431669356 CA406371291 |
67 | V>F | No |
ClinGen gnomAD |
|
|
rs1326070506 CA406371284 |
67 | V>G | No |
ClinGen gnomAD |
|
|
CA406371295 rs1431669356 |
67 | V>I | No |
ClinGen gnomAD |
|
|
rs760083523 CA406371265 |
69 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs760083523 CA9517439 |
69 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs143027616 CA9517437 |
70 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9517438 rs774790473 |
70 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382779104 RCV000625889 CA406371238 |
72 | N>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1475568526 CA406371225 |
73 | E>K | No |
ClinGen gnomAD |
|
|
rs769541845 CA9517434 |
75 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1599964868 CA406371178 |
76 | A>P | No |
ClinGen Ensembl |
|
|
rs1453078099 CA406371163 |
77 | A>G | No |
ClinGen gnomAD |
|
|
rs1453078099 CA406371161 |
77 | A>V | No |
ClinGen gnomAD |
|
|
CA406371160 rs1221580956 |
78 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406371133 rs1276945236 |
80 | G>S | No |
ClinGen gnomAD |
|
|
rs746977962 CA9517432 |
83 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9517429 rs749444775 |
85 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 91 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9517427 rs369545089 |
91 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752893027 CA406370977 |
92 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752893027 CA9517425 |
92 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 93 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 94 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767889585 CA9517424 |
95 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1458106621 CA406370929 |
96 | C>Y | No |
ClinGen TOPMed |
|
|
rs755295420 CA308958943 COSM1158172 |
97 | L>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs967310075 CA308958932 |
98 | V>G | No |
ClinGen Ensembl |
|
|
RCV000594078 CA406370887 rs1555732924 |
99 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1489856075 CA406370878 |
100 | E>* | No |
ClinGen gnomAD |
|
|
CA9517421 rs766847630 |
102 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1437263549 CA406370847 |
102 | W>R | No |
ClinGen gnomAD |
|
|
CA9517420 rs763353585 |
103 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs80356525 CA406370805 |
105 | Q>* | No |
ClinGen TOPMed |
|
|
RCV000996947 CA406370801 rs1599964580 |
105 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA9517419 rs750013718 |
106 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9517418 rs764633370 |
106 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 108 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406370743 rs1352911559 |
109 | R>C | No |
ClinGen gnomAD |
|
|
rs1299207601 CA406370738 |
109 | R>L | No |
ClinGen gnomAD |
|
|
rs142467378 CA9517415 |
113 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406370595 rs1406341216 |
115 | Q>K | No |
ClinGen gnomAD |
|
|
CA406370565 rs867842989 |
116 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA308958894 rs867842989 |
116 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs867842989 CA406370564 |
116 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1175490903 CA406370571 |
116 | R>S | No |
ClinGen gnomAD |
|
|
rs1414117471 CA406370558 |
117 | A>T | No |
ClinGen gnomAD |
|
|
CA406370538 rs1177653721 |
117 | A>V | No |
ClinGen gnomAD |
|
|
rs772116334 CA9517413 |
118 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9517412 rs772116334 |
118 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1212315490 CA406370507 |
118 | A>V | No |
ClinGen gnomAD |
|
|
CA406370475 rs1202209856 |
119 | W>* | No |
ClinGen gnomAD |
|
|
CA9517410 rs375471439 |
119 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769813697 CA9517409 |
120 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 121 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406370408 rs1223655386 |
121 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1406399678 CA406370375 |
123 | R>Q | No |
ClinGen gnomAD |
|
|
rs755348694 CA9517406 |
124 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 124 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346674058 CA406370340 |
125 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1400102769 CA406370282 |
127 | G>D | No |
ClinGen gnomAD |
|
|
rs575871533 CA9517405 |
127 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 127 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1035038196 CA308958848 |
128 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1324813776 CA406370224 |
129 | L>Q | No |
ClinGen TOPMed |
|
|
CA406370230 rs1324813776 |
129 | L>R | No |
ClinGen TOPMed |
|
|
CA9517403 rs780275755 |
130 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA9517402 rs758982194 |
132 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406370169 rs758982194 |
132 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1050720638 CA308958828 |
133 | L>R | No |
ClinGen TOPMed |
|
|
rs1555732873 RCV000591734 |
133 | L>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 134 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308958826 rs372640359 |
135 | A>G | No |
ClinGen Ensembl |
|
|
CA406370106 rs1261752420 |
137 | Q>E | No |
ClinGen gnomAD |
|
|
rs1969373503 RCV001311539 |
137 | Q>H | No |
ClinVar dbSNP |
|
|
CA406370100 rs372161100 |
137 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406370090 rs1292595587 |
138 | A>V | No |
ClinGen gnomAD |
|
|
CA406370062 rs1599964215 |
140 | V>G | No |
ClinGen Ensembl |
|
|
rs1306345283 CA406370069 |
140 | V>L | No |
ClinGen TOPMed |
|
|
CA406370071 rs1306345283 |
140 | V>M | No |
ClinGen TOPMed |
|
|
rs863224144 CA325384 RCV002285276 |
141 | Q>H | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs535683352 CA406370043 |
142 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA321664 rs535683352 RCV002285277 |
142 | A>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs535683352 CA9517396 |
142 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 142 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM297197 CA9517395 rs567096759 |
143 | A>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs775398472 CA9517393 |
144 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs775398472 CA9517394 |
144 | P>R | No |
ClinGen ExAC TOPMed |
|
|
rs1170629118 CA406370007 |
145 | P>S | No |
ClinGen TOPMed |
|
|
CA406369993 rs1371375815 |
146 | Q>R | No |
ClinGen TOPMed |
|
|
rs771739856 CA9517392 |
148 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1186341968 CA406369946 |
150 | E>* | No |
ClinGen gnomAD |
|
|
rs1186341968 CA406369944 |
150 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9517390 rs539965360 |
153 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406369907 rs1485068705 |
153 | R>S | No |
ClinGen gnomAD |
|
|
CA406369831 rs1290471043 |
158 | E>G | No |
ClinGen gnomAD |
|
|
CA9517388 rs748168313 |
159 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs960691055 CA308958701 |
160 | R>H | No |
ClinGen TOPMed |
|
|
rs960691055 CA406369786 |
160 | R>P | No |
ClinGen TOPMed |
|
|
CA9517385 rs769486266 |
160 | R>P | No |
ClinGen ExAC |
|
|
rs1225511228 CA406369777 |
161 | A>S | No |
ClinGen TOPMed |
|
|
rs1276202629 CA406369771 |
161 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9517382 rs747167154 |
162 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA406369724 rs1209643432 |
164 | C>Y | No |
ClinGen TOPMed |
|
|
rs1304888554 CA406369717 |
165 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs558412882 CA9517380 |
165 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364874488 CA406369687 |
167 | G>R | No |
ClinGen gnomAD |
|
|
rs750946088 CA9517379 |
168 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs779505447 CA9517378 |
168 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750946088 CA406369672 |
168 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA406369655 rs1285591603 |
169 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 172 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1293731096 CA406369612 |
172 | H>Y | No |
ClinGen Ensembl |
|
|
COSM1286768 rs371832021 CA9517376 |
173 | A>T | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1490342658 CA406369571 |
175 | P>A | No |
ClinGen gnomAD |
|
|
rs755841329 CA9517375 |
176 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406369514 rs1412176712 |
178 | K>R | No |
ClinGen gnomAD |
|
|
rs780840710 CA308958665 |
180 | K>E | No |
ClinGen Ensembl |
2 associated diseases with Q9H6K4
[MIM: 258501]: 3-methylglutaconic aciduria 3 (MGCA3)
An autosomal recessive metabolic disorder that causes a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGCA3 can be distinguished from MGCA1 by the absence of increase of 3-hydroxyisovaleric acid levels. {ECO:0000269|PubMed:11668429}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 165300]: Optic atrophy 3 (OPA3)
A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia. {ECO:0000269|PubMed:15342707}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive metabolic disorder that causes a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGCA3 can be distinguished from MGCA1 by the absence of increase of 3-hydroxyisovaleric acid levels. {ECO:0000269|PubMed:11668429}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia. {ECO:0000269|PubMed:15342707}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9H6K4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9H6K4 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of lipid metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. |
| response to stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q505D7 | Opa3 | Optic atrophy 3 protein homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVVGAFPMAK | LLYLGIRQVS | KPLANRIKEA | ARRSEFFKTY | ICLPPAQLYH | WVEMRTKMRI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MGFRGTVIKP | LNEEAAAELG | AELLGEATIF | IVGGGCLVLE | YWRHQAQQRH | KEEEQRAAWN |
| 130 | 140 | 150 | 160 | 170 | |
| ALRDEVGHLA | LALEALQAQV | QAAPPQGALE | ELRTELQEVR | AQLCNPGRSA | SHAVPASKK |