Q96DP5
PR
Gene name |
MTFMT (FMT, FMT1) |
Protein name |
Methionyl-tRNA formyltransferase, mitochondrial |
Names |
MtFMT |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:123263 |
EC number |
2.1.2.9: Hydroxymethyl-, formyl- and related transferases |
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 Q96DP5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96DP5-F1 | Predicted | AlphaFoldDB |
382 variants for Q96DP5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA7613442 RCV002528719 rs771777757 RCV001719088 |
6 | R>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002530580 CA271504888 RCV000660613 rs759489465 |
7 | R>G | Combined oxidative phosphorylation defect type 15 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001332912 rs933296601 RCV001859303 CA271504865 |
12 | P>T | Combined oxidative phosphorylation defect type 15 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA156425 RCV000119837 rs587777419 RCV001008656 |
25 | Q>* | Combined oxidative phosphorylation defect type 15 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA392863076 rs1555404423 RCV000578227 |
31 | R>* | Combined oxidative phosphorylation defect type 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000119835 RCV000513541 rs587777417 |
49 | R>missing | Combined oxidative phosphorylation defect type 15 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000509123 COSM3690490 CA7613429 COSM3690489 rs188718836 RCV000676589 |
58 | F>I | Combined oxidative phosphorylation defect type 15 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000499928 rs777725264 |
74 | E>missing | Combined oxidative phosphorylation defect type 15 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA130602 RCV000033050 rs397514614 VAR_069303 |
125 | S>L | Combined oxidative phosphorylation defect type 15 COXPD15; loss of methionyl-tRNA formyltransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000033049 rs397514613 RCV002482939 CA130600 |
128 | R>* | Combined oxidative phosphorylation defect type 15 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA150820 rs587777244 RCV000106391 |
151 | P>L | Combined oxidative phosphorylation defect type 15 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001328608 rs760793624 CA271500515 |
154 | R>C | Combined oxidative phosphorylation defect type 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001328609 rs2086395834 |
156 | P>S | Combined oxidative phosphorylation defect type 15 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002477042 VAR_069304 RCV002251943 rs201431517 CA130599 RCV000033047 RCV000415235 RCV000190888 RCV002513312 RCV000735417 RCV000320667 |
209 | S>L | Leigh syndrome Combined oxidative phosphorylation defect type 15 Inborn genetic diseases Mitochondrial complex 1 deficiency, nuclear type 27 Leigh syndrome (ls) COXPD15 and MC1DN27; decreased methionyl-tRNA formyltransferase activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000126842 RCV000967366 RCV001197773 rs35302908 CA292171 |
266 | R>C | Combined oxidative phosphorylation defect type 15 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000119836 rs587777418 CA156423 |
293 | S>N | Combined oxidative phosphorylation defect type 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA130603 COSM276136 rs200286768 RCV000414310 RCV003137553 RCV002514139 RCV000033051 RCV000106390 COSM276135 |
332 | R>* | Combined oxidative phosphorylation defect type 15 large_intestine Mitochondrial complex 1 deficiency, nuclear type 27 Inborn genetic diseases Developmental and epileptic encephalopathy, 48 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_081461 | 332 | R>del | MC1DN27 [UniProt] | Yes | UniProt |
|
CA7613156 RCV001252864 rs753018504 |
347 | N>S | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001252770 CA7613148 rs190189891 RCV001585914 |
365 | C>Y | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000604327 rs754222633 RCV001783110 |
367 | F>missing | Mitochondrial oxidative phosphorylation disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000196317 rs863224897 |
373 | P>missing | Combined oxidative phosphorylation defect type 15 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001655714 RCV001332911 RCV002493728 rs769122836 |
377 | K>missing | Combined oxidative phosphorylation defect type 15 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs34507711 CA7613143 RCV001266247 RCV001713076 |
377 | K>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA271504927 rs991786040 |
2 | R>G | No |
ClinGen Ensembl |
|
|
CA7613448 rs752072244 |
2 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392863904 rs1466999297 |
3 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1035884059 CA271504921 |
3 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA271504923 rs1035884059 |
3 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs967516859 CA271504902 |
4 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs763275192 CA7613446 |
4 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs766734981 CA7613447 |
4 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000676590 rs2946655 RCV000126847 CA292179 VAR_059289 |
5 | V>A | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs199599204 CA7613444 RCV000828066 |
6 | R>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs199599204 CA7613443 RCV000416005 RCV000441542 |
6 | R>W | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7613441 rs759489465 |
7 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 7 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759489465 CA271504892 |
7 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050450261 CA392863711 |
8 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1050450261 CA271504878 |
8 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA392863705 rs1272083402 |
8 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1253209123 CA392863682 |
9 | W>* | No |
ClinGen TOPMed |
|
|
CA392863654 rs1180410582 |
10 | G>D | No |
ClinGen TOPMed |
|
|
rs1231060108 CA392863676 |
10 | G>S | No |
ClinGen gnomAD |
|
|
rs1180410582 CA392863659 |
10 | G>V | No |
ClinGen TOPMed |
|
|
rs993637538 CA271504873 |
11 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1323209987 CA392863638 |
11 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs933296601 CA392863621 |
12 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs774208069 CA7613440 |
12 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774208069 CA392863611 |
12 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs933296601 CA392863617 |
12 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV003036675 rs2086461800 |
13 | L>missing | No |
ClinVar dbSNP |
|
|
rs1401470928 CA392863540 |
14 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs935174845 CA271504833 |
15 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs935174845 CA392863517 |
15 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA392863500 rs1056056384 |
15 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs935174845 CA271504845 |
15 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 15 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7613439 rs770714211 |
17 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165513667 CA392863446 |
18 | R>G | No |
ClinGen gnomAD |
|
|
rs925108863 CA271504821 |
18 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1253624821 CA392863382 |
19 | R>H | No |
ClinGen TOPMed |
|
|
rs1248246688 CA392863394 |
19 | R>S | No |
ClinGen gnomAD |
|
|
CA392863354 rs1180445218 |
20 | G>W | No |
ClinGen gnomAD |
|
|
rs1252142789 CA392863323 |
21 | R>S | No |
ClinGen gnomAD |
|
|
CA392863329 rs1340731801 |
21 | R>T | No |
ClinGen TOPMed |
|
|
rs1425437076 CA392863276 |
23 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs928783546 CA392863265 |
23 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs928783546 CA271504818 |
23 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1265684110 CA392863241 |
24 | P>R | No |
ClinGen gnomAD |
|
|
CA392863246 rs1489243701 |
24 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA392863181 rs1307631641 |
26 | W>* | No |
ClinGen gnomAD |
|
|
rs749070110 CA392863164 |
27 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749070110 CA7613437 |
27 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378349757 CA392863132 |
29 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs777905864 CA7613436 |
30 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1385477638 CA392863074 |
31 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs748428182 CA271504775 |
33 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs946225067 CA271504782 |
33 | G>R | No |
ClinGen TOPMed |
|
|
CA7613434 rs748428182 |
33 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436591655 CA392863010 |
34 | W>* | No |
ClinGen TOPMed |
|
|
rs781243751 CA7613433 |
35 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1401714074 CA392862928 |
36 | D>E | No |
ClinGen TOPMed |
|
|
rs1313734512 CA392862961 |
36 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA392862907 rs914629878 |
37 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA271504766 rs914629878 |
37 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1440200616 CA392862886 |
38 | R>Q | No |
ClinGen gnomAD |
|
|
rs1160602314 CA392862894 |
38 | R>W | No |
ClinGen gnomAD |
|
|
CA392862860 rs1394454415 |
39 | D>N | No |
ClinGen gnomAD |
|
|
CA392862685 rs1191459659 |
43 | R>L | No |
ClinGen gnomAD |
|
|
CA7613432 rs755050724 |
44 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA392862539 rs1204195350 |
47 | P>A | No |
ClinGen gnomAD |
|
|
rs1443070575 CA392862491 |
48 | W>* | No |
ClinGen gnomAD |
|
|
CA392862487 rs1287504676 |
48 | W>* | No |
ClinGen gnomAD |
|
|
CA271504755 rs1002166600 |
50 | V>G | No |
ClinGen Ensembl |
|
|
CA7613431 rs752083398 |
52 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392862373 rs1228396068 |
53 | F>V | No |
ClinGen TOPMed |
|
|
CA7613430 rs531275436 |
54 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392862348 rs531275436 |
54 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392862308 rs1302482209 |
55 | T>M | No |
ClinGen gnomAD |
|
|
CA392862299 rs1457351465 |
56 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1358908554 CA392862283 |
56 | D>V | No |
ClinGen gnomAD |
|
|
CA392862290 rs1457351465 |
56 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1420405048 CA392862192 |
59 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1262243220 CA392862148 |
60 | R>C | No |
ClinGen TOPMed |
|
|
rs1374727012 CA392862134 |
60 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA392862118 rs1171686230 |
61 | E>G | No |
ClinGen gnomAD |
|
|
rs763779460 CA7613427 |
62 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7613428 rs763779460 |
62 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392862054 rs1192260922 |
63 | L>P | No |
ClinGen gnomAD |
|
|
CA392862021 rs1264914031 |
65 | A>E | No |
ClinGen gnomAD |
|
|
CA392862019 rs1264914031 |
65 | A>G | No |
ClinGen gnomAD |
|
|
rs1264914031 CA392862017 |
65 | A>V | No |
ClinGen gnomAD |
|
|
CA392861970 rs1244223902 |
67 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs972306920 CA271504695 |
67 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 69 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs962525719 CA271504691 |
69 | A>T | No |
ClinGen Ensembl |
|
|
rs1444613575 CA392860476 |
71 | E>A | No |
ClinGen gnomAD |
|
|
rs1195549574 RCV000676587 CA392860435 |
72 | N>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs769644921 CA7613420 |
72 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7613414 rs770338758 |
76 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768732372 CA7613415 |
76 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768732372 CA7613416 |
76 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780539907 CA7613412 |
77 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758840011 CA392860201 |
78 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392860223 rs1340954504 |
78 | I>T | No |
ClinGen gnomAD |
|
|
rs1039645269 CA271503004 |
79 | D>E | No |
ClinGen TOPMed |
|
|
rs751023728 CA7613410 |
79 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs751023728 CA392860188 |
79 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA392860145 rs201724990 |
80 | K>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201724990 CA7613409 |
80 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7613408 rs757748248 |
82 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1358301355 CA392860067 |
83 | V>M | No |
ClinGen TOPMed |
|
|
CA392860041 rs767111622 |
84 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA7613406 rs767111622 |
84 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1369482216 CA392859979 |
85 | T>I | No |
ClinGen gnomAD |
|
|
CA271502978 rs752682472 |
85 | T>S | No |
ClinGen Ensembl |
|
|
rs765973652 CA7613403 |
91 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA392859831 rs1468168337 |
92 | K>E | No |
ClinGen gnomAD |
|
|
rs773172165 CA7613401 |
93 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7613400 rs764992836 |
94 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1237863602 CA392859721 |
95 | P>L | No |
ClinGen gnomAD |
|
|
CA7613399 rs202192281 |
95 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392859718 rs1331761590 |
96 | V>M | No |
ClinGen gnomAD |
|
|
CA271502946 rs767271575 |
97 | K>Q | No |
ClinGen Ensembl |
|
|
CA7613398 rs776793668 |
97 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA392859679 rs776793668 |
97 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1347712095 CA392859657 |
98 | Q>R | No |
ClinGen gnomAD |
|
|
rs1325117498 CA392859630 |
99 | Y>C | No |
ClinGen gnomAD |
|
|
rs1231137065 CA392859637 |
99 | Y>H | No |
ClinGen TOPMed |
|
|
rs768761521 CA7613397 |
100 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA392859486 rs1473709288 |
104 | Q>* | No |
ClinGen TOPMed |
|
|
CA7613394 rs560922976 |
107 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7613393 rs560922976 |
107 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779589103 CA7613392 |
108 | Y>C | No |
ClinGen ExAC |
|
|
rs1566945005 CA392859229 |
110 | W>* | No |
ClinGen Ensembl |
|
|
rs74924128 CA7613390 |
111 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA271502902 rs74924128 |
111 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392859084 rs1161893024 |
114 | G>* | No |
ClinGen TOPMed |
|
|
CA392859049 rs1452475891 |
115 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7613388 rs556724585 |
115 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA392859052 rs1452475891 |
115 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
RCV000482804 rs751294162 CA7613387 |
118 | Y>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs765777425 CA7613386 |
120 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566944983 CA392858920 |
121 | G>E | No |
ClinGen Ensembl |
|
|
rs1315143671 CA392858888 |
122 | V>A | No |
ClinGen TOPMed |
|
|
rs1026750712 CA271502869 |
122 | V>L | No |
ClinGen TOPMed |
|
|
rs750310807 CA7613383 |
123 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7613382 rs765188983 |
124 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs760801275 CA7613380 |
128 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775833784 CA7613379 |
131 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA392858598 rs1159804661 |
133 | A>V | No |
ClinGen gnomAD |
|
|
rs745979434 CA7613377 |
134 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1423499976 CA392858552 |
135 | I>T | No |
ClinGen gnomAD |
|
|
rs1595893614 CA392858569 |
135 | I>V | No |
ClinGen Ensembl |
|
|
rs926925163 CA271502820 |
136 | L>F | No |
ClinGen Ensembl |
|
|
rs1462604741 CA392858482 |
137 | K>E | No |
ClinGen TOPMed |
|
|
CA392858443 rs1478467271 |
138 | F>C | No |
ClinGen gnomAD |
|
|
CA7613376 rs774936987 |
140 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs759636107 CA7613357 |
141 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA271500529 rs1022078810 |
144 | N>H | No |
ClinGen gnomAD |
|
|
CA16619987 RCV000486527 rs1064793194 |
145 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7613355 rs771203177 |
146 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs763339472 CA7613354 |
147 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA392856395 rs587777244 |
151 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1449136095 CA392856369 |
152 | R>K | No |
ClinGen gnomAD |
|
|
CA392856308 rs771725115 |
153 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771725115 CA7613350 |
153 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566944023 CA392856341 |
153 | W>R | No |
ClinGen Ensembl |
|
|
CA7613349 rs556616320 |
154 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392856284 rs556616320 |
154 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1424664406 CA392856226 |
157 | A>T | No |
ClinGen gnomAD |
|
|
CA392856200 rs1251994999 |
158 | P>H | No |
ClinGen TOPMed |
|
|
CA392856182 rs1251994999 |
158 | P>L | No |
ClinGen TOPMed |
|
|
rs371912246 CA7613348 |
158 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs571610853 CA7613347 |
159 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs188424346 CA7613346 |
161 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200850450 CA7613345 |
162 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1362266413 CA392855980 |
165 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7613341 rs759834945 |
166 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767478510 CA7613342 |
166 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs759834945 CA392855945 |
166 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751871773 CA7613340 |
167 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763114536 CA7613338 |
168 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA271500456 rs984827487 |
169 | V>I | No |
ClinGen TOPMed |
|
|
rs1312881450 CA392855823 |
172 | V>I | No |
ClinGen gnomAD |
|
|
rs376751965 CA7613337 |
173 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7613336 rs770338048 |
173 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7613333 rs199841088 |
174 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7613332 rs528879618 |
175 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392855730 rs1401224271 |
175 | M>L | No |
ClinGen gnomAD |
|
|
rs1238734592 CA392855723 |
175 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs372125461 CA7613330 |
177 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7613331 rs183829490 |
177 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1165622672 CA392855640 |
179 | P>S | No |
ClinGen gnomAD |
|
|
rs750529665 CA7613319 |
184 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763123077 CA271498996 |
186 | P>S | No |
ClinGen TOPMed |
|
|
CA392854125 rs1358476870 |
187 | I>V | No |
ClinGen gnomAD |
|
|
rs765287326 CA7613318 |
188 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392854055 rs1595891858 |
190 | Q>E | No |
ClinGen Ensembl |
|
|
rs1234844399 CA392854039 |
190 | Q>H | No |
ClinGen gnomAD |
|
|
CA392854015 rs1385407085 |
191 | E>G | No |
ClinGen TOPMed |
|
|
rs762376847 CA7613317 |
192 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392853976 rs1196525907 |
193 | V>F | No |
ClinGen gnomAD |
|
|
CA392853958 rs529846159 |
194 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7613316 rs529846159 |
194 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA271498980 rs1041377715 |
197 | P>S | No |
ClinGen TOPMed |
|
|
CA7613314 RCV002061436 rs111388106 RCV000420388 |
201 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1352093680 CA392853678 |
206 | A>V | No |
ClinGen gnomAD |
|
|
rs1231560135 CA392853556 |
212 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA271498926 rs1054411972 |
212 | G>S | No |
ClinGen Ensembl |
|
|
CA392853512 rs1197260283 |
214 | N>S | No |
ClinGen TOPMed |
|
|
CA392853498 rs1314124929 |
215 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1566943106 CA392852699 |
216 | L>F | No |
ClinGen Ensembl |
|
|
rs377708552 CA7613285 |
217 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7613286 rs377708552 |
217 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392852681 rs1566943102 |
217 | I>T | No |
ClinGen Ensembl |
|
|
rs377708552 CA7613287 |
217 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762640243 CA7613284 |
218 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595891466 CA392852655 |
219 | V>F | No |
ClinGen Ensembl |
|
|
rs1595891457 CA392852627 |
220 | L>F | No |
ClinGen Ensembl |
|
|
CA392852635 rs1168898107 |
220 | L>S | No |
ClinGen TOPMed |
|
|
rs372732702 RCV000480605 CA7613280 |
223 | L>F | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7613282 rs188461284 RCV000605254 RCV000960177 |
223 | L>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7613279 rs768725371 |
225 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1472181771 CA392852500 |
226 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1201214835 CA392852393 |
228 | S>R | No |
ClinGen gnomAD |
|
|
rs746998016 CA7613278 |
229 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779890669 CA7613277 |
230 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1244095114 CA392852333 |
231 | R>K | No |
ClinGen gnomAD |
|
|
CA392852309 rs1437096183 |
232 | Q>* | No |
ClinGen TOPMed |
|
|
CA7613276 rs79934178 |
232 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1595891435 CA392852304 |
232 | Q>P | No |
ClinGen Ensembl |
|
|
CA392852260 rs1456569512 |
233 | Q>H | No |
ClinGen gnomAD |
|
|
rs779023287 CA7613274 |
235 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs746080337 CA7613275 |
235 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1355743192 CA392852149 |
237 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 238 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 238 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757263139 CA7613273 |
238 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916279080 CA271497939 |
238 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA271497934 rs1006996097 |
239 | T>A | No |
ClinGen Ensembl |
|
|
CA7613272 rs769826891 |
240 | Y>* | No |
ClinGen ExAC |
|
|
rs889853079 CA271497929 |
240 | Y>N | No |
ClinGen Ensembl |
|
|
rs369200237 CA271497915 |
241 | A>T | No |
ClinGen ESP TOPMed |
|
|
COSM963993 COSM963994 CA271496126 rs538051736 |
241 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed |
|
rs745679845 CA7613255 |
242 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1366660086 CA392850939 |
243 | K>E | No |
ClinGen gnomAD |
|
|
CA7613254 rs779141070 |
246 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7613253 rs771130283 |
246 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs201616830 CA7613252 |
247 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392850883 rs1170618163 |
248 | T>A | No |
ClinGen gnomAD |
|
|
rs777799434 CA7613251 |
249 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs756239745 CA7613250 |
251 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA392850754 rs1457403724 |
257 | T>A | No |
ClinGen TOPMed |
|
|
rs1415991507 CA392850735 |
258 | S>L | No |
ClinGen TOPMed |
|
|
CA7613249 rs753203248 |
258 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7613248 rs781584640 |
259 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392850715 rs1416218434 |
260 | Q>* | No |
ClinGen TOPMed |
|
|
CA392850687 rs1467505806 |
262 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 263 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392850661 rs1284664817 |
264 | L>F | No |
ClinGen gnomAD |
|
|
CA392850651 rs1595890538 |
265 | Y>H | No |
ClinGen Ensembl |
|
|
CA7613247 rs751880555 |
266 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392850617 rs1276252539 |
268 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7613246 rs766821187 |
269 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA7613244 rs753581763 |
271 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7613245 rs534249119 |
271 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs370239519 CA7613233 |
273 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357783803 CA392847453 |
273 | P>L | No |
ClinGen gnomAD |
|
|
rs370239519 CA392847482 |
273 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747614238 CA392847388 CA392847390 |
275 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755424500 CA7613231 |
275 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA392847373 rs1168569859 |
276 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA392847368 rs1420070110 |
277 | L>F | No |
ClinGen gnomAD |
|
|
CA392847339 rs1181195056 |
278 | W>* | No |
ClinGen gnomAD |
|
|
CA392847329 rs1471807026 |
278 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA392847298 rs1481761826 |
279 | M>I | No |
ClinGen TOPMed |
|
|
CA7613228 rs758882234 |
280 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7613226 rs377758917 |
282 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000898155 CA7613225 rs114097513 |
283 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7613223 rs575133242 |
286 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs575133242 CA7613222 |
286 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1179897414 CA392847039 |
290 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs918733303 CA271491076 |
292 | N>K | No |
ClinGen TOPMed |
|
|
CA7613219 rs762770982 |
296 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7613197 rs530537187 |
299 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs186670294 CA7613196 |
300 | K>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs186670294 CA7613195 |
300 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs186670294 CA271490546 |
300 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372650779 CA7613194 |
302 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7613193 rs776071935 |
304 | Q>R | No |
ClinGen ExAC |
|
|
rs182680679 CA271490521 |
306 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs182680679 CA392846544 |
306 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7613192 rs182680679 |
306 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA271490517 rs997745950 |
307 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA392846492 rs1389572093 |
308 | P>L | No |
ClinGen TOPMed |
|
|
rs746446207 CA7613191 |
308 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA392846481 rs1241667672 |
309 | G>A | No |
ClinGen gnomAD |
|
|
COSM3936822 CA392846449 rs1317674560 COSM3936821 |
312 | I>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7613190 rs779391954 |
314 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 317 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392846262 rs1408435283 |
318 | Q>K | No |
ClinGen TOPMed |
|
|
CA392846157 rs1447737311 |
322 | V>A | No |
ClinGen TOPMed |
|
|
rs1399301874 CA392846173 |
322 | V>I | No |
ClinGen gnomAD |
|
|
rs1358489616 CA392846070 |
325 | K>M | No |
ClinGen gnomAD |
|
|
CA392846067 rs1358489616 |
325 | K>R | No |
ClinGen gnomAD |
|
|
rs1169261875 CA392845036 |
326 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA392845039 COSM86512 rs1406388052 |
326 | D>Y | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 327 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1012613611 CA271489672 |
329 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA392844971 rs1255883767 |
330 | G>C | No |
ClinGen gnomAD |
|
|
CA392844957 rs768344334 |
331 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs768344334 CA7613165 |
331 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7613163 rs757948033 |
332 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7613162 rs750307221 |
333 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7613161 rs778939826 |
334 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7613160 rs756935530 |
337 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753677745 CA7613159 |
342 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1339855087 CA392844868 |
342 | A>V | No |
ClinGen gnomAD |
|
|
CA7613158 rs763851915 |
344 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA392844857 rs1183287565 |
344 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 344 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392844845 rs1411892180 |
345 | F>L | No |
ClinGen TOPMed |
|
|
rs527728573 CA7613157 |
346 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1382994913 CA392844836 |
347 | N>D | No |
ClinGen gnomAD |
|
|
CA392844820 rs1407928191 |
349 | Y>C | No |
ClinGen gnomAD |
|
|
CA392844808 rs1168045034 |
351 | H>N | No |
ClinGen gnomAD |
|
|
CA392844805 rs1595887019 |
351 | H>P | No |
ClinGen Ensembl |
|
|
rs375234265 CA7613155 |
352 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1354264543 CA392844788 |
353 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 353 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446833139 CA392844779 |
355 | Q>E | No |
ClinGen gnomAD |
|
|
rs903328455 CA271489604 |
357 | N>S | No |
ClinGen TOPMed |
|
|
CA271489600 rs1054662962 |
358 | S>F | No |
ClinGen Ensembl |
|
|
rs1436329141 CA392844755 |
358 | S>P | No |
ClinGen gnomAD |
|
|
rs1436329141 CA392844756 |
358 | S>T | No |
ClinGen gnomAD |
|
|
CA7613150 rs770181717 |
360 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1595887004 CA392844727 |
362 | P>Q | No |
ClinGen Ensembl |
|
|
rs4586374 CA392844709 |
364 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1406234296 CA392844713 |
364 | Q>P | No |
ClinGen TOPMed |
|
|
rs771526888 CA392844663 |
371 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7613146 rs771526888 |
371 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs921380809 CA392844653 |
373 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA271489565 rs921380809 |
373 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7613145 rs376154564 |
374 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs34507711 CA271489553 |
377 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749250129 CA7613142 |
378 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
COSM3794321 CA392844615 rs1427178108 COSM3794320 |
378 | Q>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA392844620 rs749250129 |
378 | Q>K | No |
ClinGen ExAC TOPMed |
|
|
CA7613140 rs777604013 |
379 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs755997866 CA7613139 |
379 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs368759868 CA7613138 |
381 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767859552 CA392844585 |
383 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392844588 rs1566938250 |
383 | A>P | No |
ClinGen Ensembl |
|
|
rs767859552 CA7613137 |
383 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7613136 rs755055132 |
384 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392844568 rs1595886954 |
386 | Q>K | No |
ClinGen Ensembl |
|
|
CA7613134 rs192348424 |
387 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7613133 rs766439529 |
388 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs763482173 CA7613132 |
389 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs773637920 CA7613131 |
390 | E>Y | No |
ClinGen ExAC gnomAD |
2 associated diseases with Q96DP5
[MIM: 614947]: Combined oxidative phosphorylation deficiency 15 (COXPD15)
An autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem. {ECO:0000269|PubMed:21907147, ECO:0000269|PubMed:25288793}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618248]: Mitochondrial complex I deficiency, nuclear type 27 (MC1DN27)
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. MC1DN27 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:22499348}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem. {ECO:0000269|PubMed:21907147, ECO:0000269|PubMed:25288793}. Note=The disease is caused by variants affecting the gene represented in this entry.
- 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. MC1DN27 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:22499348}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for Q96DP5
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.2.9 | Hydroxymethyl-, formyl- and related transferases |
| Subcellular Localization |
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|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| methionyl-tRNA formyltransferase activity | Catalysis of the reaction: 10-formyltetrahydrofolate + L-methionyl-tRNA + H2O = tetrahydrofolate + N-formylmethionyl-tRNA. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| conversion of methionyl-tRNA to N-formyl-methionyl-tRNA | The modification process that results in the conversion of methionine charged on a tRNA(fMet) to N-formyl-methionine-tRNA(fMet). |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRVLVRRCWG | PPLAHGARRG | RPSPQWRALA | RLGWEDCRDS | RVREKPPWRV | LFFGTDQFAR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EALRALHAAR | ENKEEELIDK | LEVVTMPSPS | PKGLPVKQYA | VQSQLPVYEW | PDVGSGEYDV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GVVASFGRLL | NEALILKFPY | GILNVHPSCL | PRWRGPAPVI | HTVLHGDTVT | GVTIMQIRPK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RFDVGPILKQ | ETVPVPPKST | AKELEAVLSR | LGANMLISVL | KNLPESLSNG | RQQPMEGATY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| APKISAGTSC | IKWEEQTSEQ | IFRLYRAIGN | IIPLQTLWMA | NTIKLLDLVE | VNSSVLADPK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LTGQALIPGS | VIYHKQSQIL | LVYCKDGWIG | VRSVMLKKSL | TATDFYNGYL | HPWYQKNSQA |
| 370 | 380 | ||||
| QPSQCRFQTL | RLPTKKKQKK | TVAMQQCIE |