Q9Y375
PR
Gene name |
NDUFAF1 |
Protein name |
Complex I intermediate-associated protein 30, mitochondrial |
Names |
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51103 |
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 Q9Y375
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y375-F1 | Predicted | AlphaFoldDB |
318 variants for Q9Y375
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000676313 RCV001778732 CA153847 RCV000117702 RCV000314089 VAR_013559 rs1899 |
9 | R>H | Mitochondrial complex 1 deficiency, nuclear type 11 Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000197109 CA321550 RCV002517238 rs751703770 |
12 | Y>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7491404 rs148982578 RCV000275249 |
21 | T>S | Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA153849 RCV000676312 rs3204853 RCV001778733 RCV000367569 VAR_013560 RCV000117703 |
31 | R>L | Mitochondrial complex 1 deficiency, nuclear type 11 Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA324791 RCV002517236 rs780200320 RCV000200228 |
48 | K>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200472799 RCV000301292 RCV000911034 CA321075 |
72 | T>S | Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1406147170 CA391810500 RCV001116068 |
80 | V>L | Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000198494 rs146540015 CA323005 RCV002517237 RCV001116067 |
83 | D>E | Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7491365 rs759057658 RCV001116066 |
95 | R>K | Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000408081 RCV000732392 rs151286131 CA323476 |
123 | V>A | Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001664831 RCV001330698 rs140515254 CA7491328 |
171 | A>V | Mitochondrial complex 1 deficiency, nuclear type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA292446 rs35227875 RCV000676311 RCV000127119 VAR_013561 RCV000999773 RCV000336396 |
176 | E>K | Mitochondrial complex 1 deficiency, nuclear type 11 Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7491322 rs576430165 COSM961408 RCV002556602 RCV001120994 |
179 | R>Q | large_intestine endometrium Mitochondrial complex I deficiency, nuclear type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10645903 RCV000297831 rs886051143 |
180 | S>G | Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000200385 RCV000398311 CA324955 rs372385045 |
185 | M>V | Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001120993 RCV000676310 RCV000127120 rs34979001 CA292448 |
186 | I>M | Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_081445 CA129370 rs387906956 RCV000023597 |
207 | T>P | Mitochondrial complex 1 deficiency, nuclear type 11 MC1DN11 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002513197 CA129374 rs387906958 VAR_081446 RCV000023599 |
211 | R>C | Variant assessed as Somatic; 0.0 impact. Mitochondrial complex 1 deficiency, nuclear type 11 MC1DN11 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000342483 CA10635972 rs866015009 |
215 | D>N | Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001120992 rs759432475 CA7491275 RCV003117767 |
234 | N>S | Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000192874 CA319696 rs150539399 RCV000428377 RCV001120991 |
236 | M>I | Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001119016 CA7491272 rs769371844 |
241 | M>V | Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000023600 CA391809393 rs376344575 VAR_081447 CA7491268 RCV001852023 COSM1286541 |
245 | G>R | Variant assessed as Somatic; 0.0 impact. Mitochondrial complex 1 deficiency, nuclear type 11 autonomic_ganglia MC1DN11 [NCI-TCGA, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_081448 | 252 | V>del | MC1DN11; due to a nucleotide substitution located in the splice site consensus sequence at the end of exon 3; patient cells contain transcripts lacking the final 6 base pairs of exon 3 but also contain normally spliced transcripts corresponding to protein variant R-253 [UniProt] | Yes | UniProt |
|
RCV000023598 CA129372 rs387906957 VAR_081449 RCV002513196 |
253 | K>R | Mitochondrial complex 1 deficiency, nuclear type 11 MC1DN11; due to a nucleotide substitution located in the splice site consensus sequence at the end of exon 3; patient cells contain normally spliced transcripts corresponding to protein variant R-253 but also transcripts lacking the final 6 base pairs of exon 3 and corresponding to protein variant 252-VK-253 del [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV002305537 rs759274620 CA7491199 RCV000784994 |
301 | I>F | Mitochondrial complex I deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000676308 RCV000117704 rs12900702 RCV000348185 CA153851 VAR_013562 |
314 | A>G | Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs863224089 RCV000199345 |
1 | M>T | No |
ClinVar dbSNP |
|
|
rs1368004916 CA391811013 |
2 | A>G | No |
ClinGen gnomAD |
|
|
rs1438723695 CA391810979 |
5 | H>R | No |
ClinGen gnomAD |
|
|
CA7491410 rs370757381 |
5 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1295204221 CA391810967 |
6 | K>T | No |
ClinGen TOPMed |
|
|
rs756628573 CA391810958 |
7 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756628573 CA7491409 |
7 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7491408 rs748667954 |
8 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA391810949 rs1420527153 |
9 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 10 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7491407 rs755089890 |
11 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA269681429 rs1033098265 |
14 | L>H | No |
ClinGen TOPMed |
|
|
CA7491406 rs766474904 |
14 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 16 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566825675 CA391810896 |
17 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs570752499 CA7491405 |
17 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 18 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484645285 CA391810881 |
19 | K>N | No |
ClinGen gnomAD |
|
|
CA391810879 rs1240999794 |
20 | P>S | No |
ClinGen gnomAD |
|
|
CA7491403 rs148982578 |
21 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1425036537 CA391810871 |
21 | T>I | No |
ClinGen TOPMed |
|
|
CA391810874 rs148982578 |
21 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7491401 rs527415814 CA269681409 |
24 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000198376 rs138995454 CA322886 |
24 | L>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA391810849 rs1595408693 |
25 | Y>F | No |
ClinGen Ensembl |
|
|
CA7491400 rs200903332 |
26 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1161441780 CA391810821 |
29 | G>V | No |
ClinGen TOPMed |
|
|
rs771572097 CA7491398 |
31 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7491397 rs3204853 |
31 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391810811 rs3204853 |
31 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1028755172 CA269681404 |
33 | A>T | No |
ClinGen TOPMed |
|
|
rs748574378 CA7491395 |
36 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA391810778 rs1311226624 |
36 | S>C | No |
ClinGen gnomAD |
|
|
rs372827489 CA269681396 |
37 | S>T | No |
ClinGen ESP TOPMed |
|
|
CA391810759 rs1359521310 |
39 | L>F | No |
ClinGen gnomAD |
|
|
rs1178215014 CA391810734 |
42 | P>L | No |
ClinGen gnomAD |
|
|
CA391810733 rs1426638892 |
43 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755573481 CA7491393 |
44 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs781756071 CA7491394 |
44 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7491392 rs747016070 |
45 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1209630180 CA391810710 |
47 | G>C | No |
ClinGen gnomAD |
|
|
rs866496974 CA269681384 |
47 | G>D | No |
ClinGen Ensembl |
|
|
rs141186910 CA7491390 |
49 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141186910 CA7491391 |
49 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391810691 rs1306297093 |
50 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1295429197 CA391810687 |
51 | S>L | No |
ClinGen gnomAD |
|
|
rs201302970 CA7491387 |
54 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1291735683 CA391810664 |
54 | K>N | No |
ClinGen gnomAD |
|
|
rs201302970 CA391810666 |
54 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753669866 CA7491386 |
55 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200076862 CA391810646 |
57 | G>E | No |
ClinGen TOPMed |
|
|
rs1595408521 CA391810640 |
58 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 58 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1044750026 CA269681350 |
58 | D>Y | No |
ClinGen gnomAD |
|
|
rs1304336520 CA391810627 |
60 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 62 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391810601 rs1353881197 |
63 | H>Q | No |
ClinGen gnomAD |
|
|
CA7491384 rs763975252 |
64 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7491382 rs752089043 |
66 | E>* | No |
ClinGen ExAC |
|
|
CA7491381 rs767057894 |
66 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs759033737 CA7491380 |
66 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs767057894 CA391810582 |
66 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs201452351 CA7491379 |
67 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046518874 CA269681276 |
68 | A>G | No |
ClinGen TOPMed |
|
|
rs1257782096 CA391810561 |
70 | D>H | No |
ClinGen gnomAD |
|
|
CA391810562 rs1257782096 |
70 | D>N | No |
ClinGen gnomAD |
|
|
rs1257782096 CA391810560 |
70 | D>Y | No |
ClinGen gnomAD |
|
|
rs200472799 CA7491377 |
72 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770749376 CA7491378 |
72 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA269681265 rs916186957 |
73 | S>C | No |
ClinGen TOPMed gnomAD |
|
| rs1566825381 | 74 | S>ATREAEAGEWREPGRRSLQ* | No | Ensembl | |
|
rs1157248486 CA391810535 |
74 | S>F | No |
ClinGen TOPMed |
|
|
rs962220992 CA269681263 |
74 | S>P | No |
ClinGen Ensembl |
|
|
rs769232284 CA7491376 |
75 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA7491375 rs747558982 |
75 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs780496237 CA7491374 |
75 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 77 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772181845 CA7491373 |
78 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs991617897 CA269681231 |
79 | D>G | No |
ClinGen TOPMed |
|
|
rs1322716484 CA391810497 |
80 | V>A | No |
ClinGen TOPMed |
|
|
rs1186544556 CA391810490 |
81 | S>N | No |
ClinGen gnomAD |
|
|
CA269681230 rs201811339 |
82 | F>S | No |
ClinGen 1000Genomes |
|
|
CA7491371 rs779073553 |
83 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7491370 rs753576869 |
86 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7491369 rs149991858 |
87 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1391715259 CA391810449 |
87 | R>S | No |
ClinGen gnomAD |
|
|
CA7491368 rs755937936 |
88 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7491367 rs752674025 |
90 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391810427 rs1348221711 |
91 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA391810420 rs1369848414 |
92 | Y>H | No |
ClinGen gnomAD |
|
|
rs767410271 CA7491366 |
93 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA391810397 rs1417769546 |
95 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1251632452 CA391810382 |
97 | L>F | No |
ClinGen gnomAD |
|
|
rs751146273 CA7491364 |
97 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs766081384 COSM961411 CA7491363 |
98 | K>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7491362 rs762712935 |
102 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs200211064 CA7491361 |
103 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1237152841 CA391810334 |
104 | H>R | No |
ClinGen gnomAD |
|
|
rs1309689541 CA391810328 |
105 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1309689541 CA391810329 |
105 | W>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 107 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761006121 CA7491359 |
107 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA269681135 rs773320114 |
108 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA269681139 rs773320114 |
108 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1450166549 CA391810309 |
108 | P>T | No |
ClinGen TOPMed |
|
|
CA269681115 rs966020201 |
112 | P>L | No |
ClinGen Ensembl |
|
|
CA269681108 rs1009484937 |
114 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1009484937 CA269681107 |
114 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs745904379 CA7491356 |
115 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs892338283 CA269681076 |
118 | L>V | No |
ClinGen TOPMed |
|
|
CA269681063 rs771083321 |
120 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771083321 CA7491354 |
120 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7491353 rs201292698 |
121 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1566825196 CA391810227 |
121 | A>S | No |
ClinGen Ensembl |
|
|
rs1595408219 CA391810216 |
123 | V>I | No |
ClinGen Ensembl |
|
|
CA391810205 rs1411399958 |
125 | W>G | No |
ClinGen TOPMed |
|
| TCGA novel | 126 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391810185 rs1269546287 |
127 | F>Y | No |
ClinGen gnomAD |
|
|
rs1015209588 CA269681039 |
128 | R>Q | No |
ClinGen TOPMed |
|
|
CA269681040 rs1001079811 |
128 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA269681034 rs904961831 |
129 | G>R | No |
ClinGen Ensembl |
|
|
CA7491351 rs752477209 |
132 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA7491349 rs142141775 |
135 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754896010 CA7491348 |
136 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs541516163 CA7491347 |
137 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1678380 CA7491346 rs542781425 |
139 | T>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs750090678 CA7491344 |
141 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA269680988 rs949086698 |
141 | D>G | No |
ClinGen Ensembl |
|
|
CA391810078 rs1360791398 |
143 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7491342 rs761067186 |
146 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1275766654 CA391810064 |
146 | G>S | No |
ClinGen TOPMed |
|
|
CA7491339 rs760046397 |
148 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 150 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200017509 CA269680962 |
151 | F>V | No |
ClinGen TOPMed |
|
|
rs571701028 CA7491336 |
153 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA269680958 rs571701028 |
153 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477501639 CA391809998 |
155 | G>A | No |
ClinGen gnomAD |
|
|
rs1477501639 CA391809999 |
155 | G>D | No |
ClinGen gnomAD |
|
|
CA7491335 rs370772284 |
158 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1264170827 CA391809977 |
158 | N>T | No |
ClinGen gnomAD |
|
|
CA7491334 rs769942661 |
159 | Q>H | No |
ClinGen ExAC |
|
|
CA391809969 rs1173363296 |
159 | Q>R | No |
ClinGen gnomAD |
|
|
rs377382433 CA7491331 |
164 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391809931 rs1347077772 |
165 | G>A | No |
ClinGen gnomAD |
|
|
CA391809922 rs1389306337 |
167 | L>V | No |
ClinGen TOPMed |
|
|
rs1053052 CA269680941 |
169 | S>P | No |
ClinGen Ensembl |
|
|
CA7491329 rs572544534 |
171 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs373384879 CA391809873 |
174 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391809868 rs1412527543 |
175 | G>A | No |
ClinGen gnomAD |
|
|
CA7491325 rs768427310 |
175 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA391809866 rs35227875 |
176 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7491324 rs369731294 |
177 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369731294 CA7491323 |
177 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1064793767 RCV000482043 |
178 | T>missing | No |
ClinVar dbSNP |
|
|
rs1415366847 CA391809848 |
179 | R>* | No |
ClinGen gnomAD |
|
|
CA391809846 rs576430165 |
179 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391809847 rs576430165 |
179 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7491320 rs200601787 |
180 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1196177120 CA391809836 |
181 | G>A | No |
ClinGen gnomAD |
|
|
CA391809814 rs1258234372 COSM961406 |
184 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1443870452 CA391809806 |
185 | M>I | No |
ClinGen gnomAD |
|
|
CA7491317 rs145285042 |
185 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7491316 rs368460397 |
186 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1318073580 CA391809793 |
188 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA391809791 rs1259404528 |
188 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 189 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7491314 rs746853080 |
191 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA391809771 rs746853080 |
191 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1014659217 CA269679881 |
193 | A>T | No |
ClinGen gnomAD |
|
|
rs765232101 CA7491300 |
195 | E>* | No |
ClinGen ExAC |
|
|
rs776698121 CA7491298 |
196 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1235254673 CA391809708 |
198 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1349367352 CA391809713 |
198 | M>V | No |
ClinGen gnomAD |
|
|
rs1378297347 CA391809690 |
201 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1378297347 CA391809691 |
201 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 202 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391809670 rs772073833 |
203 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs772073833 CA7491294 |
203 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs150473872 CA7491293 |
206 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1191661379 CA391809644 |
207 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000597394 rs1487903987 CA391809641 |
208 | L>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1246757729 CA391809638 |
208 | L>P | No |
ClinGen gnomAD |
|
|
rs1487903987 CA391809640 |
208 | L>V | No |
ClinGen gnomAD |
|
|
CA391809633 rs1566823923 |
209 | Y>C | No |
ClinGen Ensembl |
|
|
rs1444954006 CA391809634 |
209 | Y>D | No |
ClinGen gnomAD |
|
|
rs770333609 COSM1372761 CA7491291 |
211 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748877002 CA7491290 |
213 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs144437724 CA7491289 |
213 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144437724 CA391809609 |
213 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391809610 rs144437724 |
213 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755787434 CA7491288 |
214 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs866015009 CA391809603 |
215 | D>H | No |
ClinGen Ensembl |
|
|
CA391809599 rs1249290631 |
215 | D>V | No |
ClinGen TOPMed |
|
|
rs780401493 CA325263 RCV000200677 |
217 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM1323216 CA7491286 rs751866388 |
217 | R>W | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA391809575 CA391809573 rs1438657324 |
219 | W>C | No |
ClinGen gnomAD |
|
|
rs1205979977 CA391809559 |
221 | V>A | No |
ClinGen TOPMed |
|
|
rs758864377 CA7491285 |
222 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA391809545 rs750885324 |
223 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA7491284 rs750885324 |
223 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA391809508 rs1432491374 |
228 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 228 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753985691 CA7491280 |
229 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 230 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7491279 rs149257811 |
231 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374200282 CA269679767 |
232 | R>M | No |
ClinGen ESP TOPMed |
|
|
CA7491277 rs138419254 |
233 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1288574309 CA391809462 |
235 | Q>* | No |
ClinGen gnomAD |
|
|
COSM1516992 rs1208693484 CA391809454 |
236 | M>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs770939199 CA320466 RCV000196065 |
238 | S>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs765519230 CA269679737 |
238 | S>N | No |
ClinGen Ensembl |
|
|
CA391809439 rs770939199 |
238 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777280384 CA7491273 |
239 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1277863271 CA391809421 |
240 | F>L | No |
ClinGen gnomAD |
|
|
rs1342182630 CA391809410 |
242 | F>L | No |
ClinGen gnomAD |
|
|
CA7491271 rs141504721 |
244 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391809396 rs141504721 |
244 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780883829 CA7491270 COSM961403 |
244 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
CA7491269 rs376344575 |
245 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7491267 rs532359971 |
247 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7491266 COSM3956613 rs200818305 |
247 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1250952635 CA391809376 |
248 | Y>S | No |
ClinGen gnomAD |
|
|
rs1264203795 CA391809364 |
249 | W>C | No |
ClinGen TOPMed |
|
|
CA391809362 rs1461127502 |
250 | Q>K | No |
ClinGen TOPMed |
|
|
rs916524216 CA269679710 |
251 | E>D | No |
ClinGen Ensembl |
|
|
CA391809351 rs1595405939 |
251 | E>G | No |
ClinGen Ensembl |
|
|
CA269679711 rs948702595 |
251 | E>K | No |
ClinGen Ensembl |
|
|
CA391809343 rs1595405931 |
252 | V>G | No |
ClinGen Ensembl |
|
|
CA391840618 rs1342881465 |
254 | I>V | No |
ClinGen TOPMed |
|
|
rs1225699201 CA391840585 |
255 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 258 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766193672 CA7491243 |
261 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA7491242 rs201756363 COSM699883 |
262 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed |
|
CA7491241 rs201756363 |
262 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs765203135 CA7491240 COSM961402 |
264 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs765203135 CA269714601 |
264 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761275085 CA7491239 |
264 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372830971 CA7491238 |
265 | G>E | No |
ClinGen ESP ExAC |
|
|
rs1271505371 CA391840339 |
266 | R>G | No |
ClinGen gnomAD |
|
|
rs746675778 CA7491236 |
266 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs771309184 CA7491234 |
268 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369357784 CA7491235 |
268 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391840239 rs1397087586 |
270 | V>F | No |
ClinGen gnomAD |
|
|
rs1397087586 CA391840236 |
270 | V>L | No |
ClinGen gnomAD |
|
|
CA7491233 rs749718737 |
272 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1426593736 CA391840092 |
274 | L>F | No |
ClinGen TOPMed |
|
|
rs770453146 CA7491231 COSM1216918 |
275 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs778392729 CA7491232 |
275 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs199654703 CA7491228 |
277 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1406780543 CA391839964 |
277 | D>E | No |
ClinGen TOPMed |
|
|
rs199654703 CA391839974 |
277 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7491227 rs138973347 |
278 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs768761113 | 279 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 281 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218987576 CA391839662 |
282 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA269714286 rs915264397 |
283 | G>V | No |
ClinGen TOPMed |
|
|
CA391839558 rs1595628597 |
287 | A>V | No |
ClinGen Ensembl |
|
|
CA7491207 rs750164116 |
289 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391839477 rs1242437491 |
290 | V>A | No |
ClinGen TOPMed |
|
|
rs757107634 CA7491205 |
291 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs778681144 CA391839471 |
291 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778681144 CA7491206 |
291 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760200405 CA7491202 |
295 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141408814 CA7491200 |
298 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375783945 CA7491201 |
298 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA269714251 rs376901654 |
299 | D>N | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 299 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770269434 CA7491197 |
303 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769078444 CA7491194 |
306 | D>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000959935 CA320920 rs201191044 |
307 | P>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs199599633 CA7491192 |
309 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746082814 RCV000882841 CA7491191 |
309 | H>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA269714216 rs746082814 |
309 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391839055 rs199599633 |
309 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391839026 rs1217560084 |
310 | T>A | No |
ClinGen gnomAD |
|
|
rs1284241550 CA391838994 |
311 | E>G | No |
ClinGen gnomAD |
|
|
rs779160058 CA7491190 |
311 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338206885 CA391838954 |
312 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA391838977 rs1406956762 |
312 | E>Q | No |
ClinGen gnomAD |
|
|
CA7491189 rs12900702 |
314 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369613919 CA7491188 |
317 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391838805 rs1346912057 |
317 | N>S | No |
ClinGen gnomAD |
|
|
CA7491187 rs200394888 |
320 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7491185 rs767139367 |
320 | E>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200394888 CA7491186 |
320 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7491184 rs148929517 |
321 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391838685 rs1164943845 |
323 | P>A | No |
ClinGen Ensembl |
|
|
CA7491183 rs751234153 |
324 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1052406860 CA269714124 |
325 | L>F | No |
ClinGen TOPMed |
|
|
CA7491181 rs762199042 |
326 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7491180 rs776884730 |
328 | K>Q | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9Y375
[MIM: 618234]: Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11)
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN11 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:17557076, ECO:0000269|PubMed:21931170}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN11 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:17557076, ECO:0000269|PubMed:21931170}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q9Y375
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | NADH:ubiquinone oxidoreductase intermediate-associated protein 30 | 125 - 298 | IPR013857 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrial respiratory chain complex I | A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. |
| 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 |
|---|---|
| unfolded protein binding | Binding to an unfolded protein. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| chaperone-mediated protein complex assembly | The aggregation, arrangement and bonding together of a set of components to form a protein complex, mediated by chaperone molecules that do not form part of the finished complex. |
| mitochondrial electron transport, NADH to ubiquinone | The transfer of electrons from NADH to ubiquinone that occurs during oxidative phosphorylation. |
| mitochondrial respiratory chain complex I assembly | The aggregation, arrangement and bonding together of a set of components to form mitochondrial respiratory chain complex I. |
| NADH dehydrogenase complex assembly | The aggregation, arrangement and bonding together of a set of components to form an NADH dehydrogenase complex. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q18726 | nuaf-1 | Probable complex I intermediate-associated protein 30, mitochondrial | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALVHKLLRG | TYFLRKFSKP | TSALYPFLGI | RFAEYSSSLQ | KPVASPGKAS | SQRKTEGDLQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GDHQKEVALD | ITSSEEKPDV | SFDKAIRDEA | IYHFRLLKDE | IVDHWRGPEG | HPLHEVLLEQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AKVVWQFRGK | EDLDKWTVTS | DKTIGGRSEV | FLKMGKNNQS | ALLYGTLSSE | APQDGESTRS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GYCAMISRIP | RGAFERKMSY | DWSQFNTLYL | RVRGDGRPWM | VNIKEDTDFF | QRTNQMYSYF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MFTRGGPYWQ | EVKIPFSKFF | FSNRGRIRDV | QHELPLDKIS | SIGFTLADKV | DGPFFLEIDF |
| 310 | 320 | ||||
| IGVFTDPAHT | EEFAYENSPE | LNPRLFK |