Q9H3J6
PR
Gene name |
MTRFR |
Protein name |
Mitochondrial translation release factor in rescue |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:91574 |
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
2 structures for Q9H3J6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7A5H | EM | 330 A | C | 1-166 | PDB |
| AF-Q9H3J6-F1 | Predicted | AlphaFoldDB |
172 variants for Q9H3J6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001065062 rs2048143498 |
12 | P>missing | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002520791 CA6856504 RCV000356526 rs751310720 |
12 | P>S | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000230554 CA288699 rs78651634 RCV001112525 RCV000116506 RCV000676975 RCV001847677 |
15 | R>Q | Hereditary spastic paraplegia Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000592033 CA245126481 rs930288422 RCV002531106 |
18 | P>L | Variant assessed as Somatic; impact. Combined oxidative phosphorylation defect type 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs140452371 CA6856508 RCV001338525 RCV000676976 RCV000261649 |
19 | A>V | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002500608 rs863223926 RCV000198209 RCV000694009 |
34 | P>missing | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6856518 RCV001507812 rs146534475 RCV001219721 RCV000352905 |
38 | V>I | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001263155 rs2048145654 |
43 | M>missing | Hereditary spastic paraplegia 55 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768652922 CA6856532 RCV002240652 RCV001113854 |
61 | E>K | Variant assessed as Somatic; 0.0 impact. Combined oxidative phosphorylation defect type 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000200775 RCV000000071 RCV001382822 rs576462794 |
72 | G>missing | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001197861 rs1207537130 |
72 | G>A | Hereditary spastic paraplegia 55 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA320742 rs374311195 RCV000196324 RCV002228874 |
82 | V>M | Variant assessed as Somatic; 0.0 impact. Combined oxidative phosphorylation defect type 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587776508 RCV000679867 RCV001003606 RCV000000070 RCV000454329 |
83 | V>missing | Hereditary spastic paraplegia 55 Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_084490 | 83 | V>G | COXPD7; decreased cytochrome c oxidase activity in fibroblasts; severe assembly defects in mitochondrial complexes I, IV and V with a milder defect in the assembly of complex III; no effect on mitochondrial transcripts, rRNAs and tRNAs levels [UniProt] | Yes | UniProt |
|
RCV000707177 rs1565998038 CA387118836 |
86 | H>L | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001225888 CA6856576 rs367548363 |
99 | R>K | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA387118938 rs1459276555 RCV001294280 |
99 | R>S | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001113856 rs1565999184 |
102 | D>N | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048187051 RCV001035224 |
103 | Q>missing | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000819818 CA6856584 rs147098739 |
109 | R>Q | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000076925 RCV001781400 rs398122972 |
115 | K>* | Hereditary spastic paraplegia 55 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660551 rs374464556 CA6856589 |
116 | V>A | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_084491 | 116 | V>del | SPG55 and COXPD7; decreased activity of mitochondrial respiratory chain; no effect on mitochondrial morphology [UniProt] | Yes | UniProt |
|
RCV001113858 rs767743830 CA245129727 |
118 | V>A | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA130375 RCV000733240 rs397514539 RCV000032782 RCV002228073 |
132 | R>* | Hereditary spastic paraplegia 55 Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_084492 | 132 | R>del | SPG55 [UniProt] | Yes | UniProt |
|
rs587777667 RCV000133580 |
138 | K>missing | Hereditary spastic paraplegia 55 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000513336 RCV001081513 CA289765 RCV001847744 RCV000124049 RCV001113859 rs147328685 |
138 | K>R | Hereditary spastic paraplegia Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA145384 rs398122365 RCV000074452 |
139 | Q>* | Hereditary spastic paraplegia 55 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_084493 | 139 | Q>del | SPG55 [UniProt] | Yes | UniProt |
|
RCV000800098 rs1255911546 CA387119208 |
140 | E>G | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs755467137 RCV000585621 CA6856614 RCV002232210 |
159 | W>R | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6856618 rs371852394 RCV001109842 RCV002556154 CA6856619 |
162 | S>R | Combined oxidative phosphorylation defect type 7 [ClinVar] | Yes |
ClinGen ESP ExAC gnomAD ClinVar dbSNP |
|
CA6856498 rs776309478 |
2 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs759071175 CA6856499 |
3 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA6856501 rs752442017 COSM936407 |
4 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387118324 rs1395778232 |
5 | G>R | No |
ClinGen gnomAD |
|
|
rs972085175 CA245126437 |
8 | H>D | No |
ClinGen gnomAD |
|
|
CA387118354 rs148657561 |
9 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387118357 rs1361831518 |
9 | F>L | No |
ClinGen gnomAD |
|
|
CA6856502 rs148657561 |
9 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6856503 rs143410718 |
11 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757148270 CA6856505 |
15 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1324562992 CA387118396 |
17 | C>R | No |
ClinGen gnomAD |
|
|
CA6856506 rs750337588 |
18 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1005139733 CA245126519 |
20 | P>L | No |
ClinGen TOPMed |
|
|
rs1270440633 CA387118424 |
21 | W>C | No |
ClinGen gnomAD |
|
|
CA387118418 rs1229348563 |
21 | W>R | No |
ClinGen gnomAD |
|
|
COSM1161038 CA6856510 rs755166271 |
22 | G>E | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6856512 rs144150548 |
24 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6856511 rs144150548 |
24 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387118438 rs1213618941 |
24 | R>W | No |
ClinGen gnomAD |
|
|
CA6856513 rs772476571 |
25 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs773907069 CA6856514 |
25 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA387118440 rs772476571 |
25 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA387118465 rs1419923231 |
28 | K>R | No |
ClinGen gnomAD |
|
|
CA6856516 rs569446110 |
30 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA387118500 rs1164200613 |
34 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA387118515 rs1229358388 COSM1197388 |
36 | I>T | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs763737597 CA6856519 |
39 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs375329890 CA6856520 |
40 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375329890 CA387118538 |
40 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387118536 rs1372097501 |
40 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6856522 rs767267410 |
41 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs554527457 CA6856523 |
43 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1413708853 CA387118569 |
45 | G>D | No |
ClinGen TOPMed |
|
|
CA387118576 rs1324063945 |
46 | K>R | No |
ClinGen gnomAD |
|
| rs767823614 | 47 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6856525 rs756031212 |
48 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766457439 CA6856526 |
49 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs753885170 CA6856527 |
51 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6856528 rs755183501 |
54 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs566639953 CA6856529 |
55 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748299535 CA6856530 |
56 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA387118655 rs1183489964 COSM1198021 |
58 | N>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA245126696 rs1011967250 |
60 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1020292509 CA245126710 |
62 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs747580904 CA6856534 |
63 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs771507731 CA6856535 |
64 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6856536 rs775145570 |
65 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774214057 CA245126741 |
68 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774214057 CA387118720 |
68 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs748793321 CA387118723 |
68 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010658788 CA245126740 |
68 | H>Y | No |
ClinGen Ensembl |
|
|
rs200516874 CA387118724 |
69 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000522369 rs200516874 CA6856538 |
69 | G>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 70 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774090934 CA6856539 |
71 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA387118746 rs1207537130 |
72 | G>V | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387118757 rs1278504539 |
74 | A>T | No |
ClinGen gnomAD |
|
|
rs761365967 CA6856540 |
74 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6856541 rs767357422 |
75 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6856542 rs370312552 |
77 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA245126820 rs965839579 |
78 | T>A | No |
ClinGen TOPMed |
|
|
rs552752683 CA6856545 |
79 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374311195 TCGA novel CA321573 RCV000197129 |
82 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs138833360 CA6856547 |
87 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199569340 CA245126891 |
87 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1335199235 CA387118856 |
89 | S>L | No |
ClinGen gnomAD |
|
|
CA6856549 rs751906544 |
90 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA245126908 rs745369569 |
92 | V>A | No |
ClinGen Ensembl |
|
|
rs781746861 CA387118870 |
92 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781746861 CA387118869 |
92 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781746861 CA6856551 |
92 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387118878 rs1593287775 |
93 | V>A | No |
ClinGen Ensembl |
|
|
CA387118906 rs1064793074 |
95 | C>G | No |
ClinGen TOPMed |
|
|
rs1064793074 RCV000485344 CA16619452 |
95 | C>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA387118908 rs1472103922 |
95 | C>Y | No |
ClinGen TOPMed |
|
|
rs750994936 COSM692530 CA6856575 |
97 | Q>E | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1158813876 CA387118934 |
99 | R>G | No |
ClinGen gnomAD |
|
|
CA322811 rs367548363 |
99 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771731189 CA6856579 |
101 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387118945 rs1163469605 |
101 | V>I | No |
ClinGen gnomAD |
|
|
CA387118952 rs1565999184 |
102 | D>Y | No |
ClinGen Ensembl |
|
|
CA6856580 rs777447851 |
103 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs573747271 CA387118964 |
103 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 104 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6856583 rs372252104 |
109 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1278716769 CA387119020 |
112 | L>P | No |
ClinGen TOPMed |
|
|
rs763079046 CA6856587 |
114 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6856590 rs374464556 |
116 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764248299 CA6856588 |
116 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs767937395 CA6856591 |
117 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA245129697 rs752452685 |
117 | D>H | No |
ClinGen Ensembl |
|
|
rs1293454440 CA387119054 |
118 | V>I | No |
ClinGen gnomAD |
|
|
rs1473803862 CA387119076 |
121 | N>D | No |
ClinGen gnomAD |
|
|
rs1186385815 CA387119078 |
121 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387119083 rs1403915756 |
122 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 123 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387119093 rs1368357351 |
123 | E>G | No |
ClinGen gnomAD |
|
|
rs766742941 CA6856594 |
124 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387119104 rs1221087654 |
125 | S>R | No |
ClinGen gnomAD |
|
|
rs1429335612 CA387119116 |
126 | P>R | No |
ClinGen gnomAD |
|
|
rs1565999297 CA387119120 |
127 | V>L | No |
ClinGen Ensembl |
|
|
rs1265373221 CA387119144 |
130 | E>G | No |
ClinGen gnomAD |
|
|
rs1350854091 CA387119150 |
131 | K>E | No |
ClinGen gnomAD |
|
|
CA387119157 rs368398729 |
132 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6856595 rs368398729 |
132 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1339742031 CA387119165 |
133 | E>D | No |
ClinGen gnomAD |
|
|
VAR_037325 rs1045496 CA245129748 |
134 | A>T | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA6856596 rs777262448 |
134 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6856598 rs574184406 |
135 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6856600 rs769794305 |
139 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1139873 CA245129820 |
140 | E>* | No |
ClinGen gnomAD |
|
|
CA387119211 rs1184486952 |
140 | E>D | No |
ClinGen gnomAD |
|
|
rs1139873 CA387119206 |
140 | E>Q | No |
ClinGen gnomAD |
|
|
rs1424900473 CA387119213 |
141 | R>G | No |
ClinGen gnomAD |
|
|
CA245129823 rs200180625 |
141 | R>M | No |
ClinGen 1000Genomes |
|
|
rs1593290145 CA387119230 |
143 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 143 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1448987280 CA387119234 |
144 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 144 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387119237 rs1169344401 |
144 | R>T | No |
ClinGen gnomAD |
|
|
CA6856602 rs749208492 |
145 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1439433665 RCV000512733 |
148 | T>missing | No |
ClinVar dbSNP |
|
|
CA6856603 rs768913439 |
150 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA387119294 rs1226975662 |
152 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 152 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767594257 CA6856606 |
152 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs773644413 CA6856608 |
153 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387119303 rs1171830420 |
154 | L>V | No |
ClinGen TOPMed |
|
|
rs760991740 CA6856610 |
155 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs760991740 CA6856611 |
155 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 158 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000427984 CA16607118 rs1057522273 |
158 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs763611268 CA6856615 |
160 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751008484 CA6856616 |
161 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1392103067 CA387119350 |
161 | S>L | No |
ClinGen gnomAD |
|
|
rs756965312 CA6856617 |
162 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6856621 rs755905230 |
166 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387119381 rs1593290260 |
166 | H>P | No |
ClinGen Ensembl |
|
|
CA6856620 rs755905230 |
166 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
2 associated diseases with Q9H3J6
[MIM: 613559]: Combined oxidative phosphorylation deficiency 7 (COXPD7)
A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness. {ECO:0000269|PubMed:20598281, ECO:0000269|PubMed:25995486, ECO:0000269|PubMed:32478789, ECO:0000269|PubMed:32808965}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 615035]: Spastic paraplegia 55, autosomal recessive (SPG55)
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. {ECO:0000269|PubMed:23188110, ECO:0000269|PubMed:24080142, ECO:0000269|PubMed:24198383, ECO:0000269|PubMed:26380172}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness. {ECO:0000269|PubMed:20598281, ECO:0000269|PubMed:25995486, ECO:0000269|PubMed:32478789, ECO:0000269|PubMed:32808965}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. {ECO:0000269|PubMed:23188110, ECO:0000269|PubMed:24080142, ECO:0000269|PubMed:24198383, ECO:0000269|PubMed:26380172}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q9H3J6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Peptide chain release factor class I | 53 - 147 | IPR000352 |
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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ribosomal large subunit binding | Binding to a large ribosomal subunit. |
| translation release factor activity | Involved in catalyzing the release of a nascent polypeptide chain from a ribosome. |
| tRNA binding | Binding to a transfer RNA. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| rescue of stalled ribosome | A process of translational elongation that takes place when a ribosome has stalled during translation, and results in freeing the ribosome from the stalled translation complex. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSTVGLFHFP | TPLTRICPAP | WGLRLWEKLT | LLSPGIAVTP | VQMAGKKDYP | ALLSLDENEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EEQFVKGHGP | GGQATNKTSN | CVVLKHIPSG | IVVKCHQTRS | VDQNRKLARK | ILQEKVDVFY |
| 130 | 140 | 150 | 160 | ||
| NGENSPVHKE | KREAAKKKQE | RKKRAKETLE | KKKLLKELWE | SSKKVH |