O75439
PR
Gene name |
PMPCB (MPPB) |
Protein name |
Mitochondrial-processing peptidase subunit beta |
Names |
Beta-MPP, P-52 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9512 |
EC number |
3.4.24.64: Metalloendopeptidases |
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 O75439
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O75439-F1 | Predicted | AlphaFoldDB |
397 variants for O75439
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001859291 CA4417786 rs77305684 RCV001332397 RCV002546556 |
10 | L>V | Multiple mitochondrial dysfunctions syndrome 6 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs762743960 CA4417851 RCV001332396 |
50 | Q>H | Variant assessed as Somatic; 0.0 impact. Multiple mitochondrial dysfunctions syndrome 6 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA4417973 RCV001332398 rs777654434 |
157 | L>R | Multiple mitochondrial dysfunctions syndrome 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4417986 RCV000626411 VAR_080804 RCV001267319 rs145596167 RCV001249736 |
175 | R>C | Multiple mitochondrial dysfunctions syndrome 6 PMPCB-related mitochondrial disorder Inborn genetic diseases MMDS6; exhibits temperature-sensitive defect in presequence processing activity, when tested in yeast [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs200188353 RCV000626413 CA4417987 VAR_080805 |
175 | R>H | Variant assessed as Somatic; 0.0 impact. Multiple mitochondrial dysfunctions syndrome 6 MMDS6; exhibits temperature-sensitive defect in presequence processing activity, when tested in yeast [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_080806 RCV000626414 rs1436866272 CA368734896 |
177 | V>G | Multiple mitochondrial dysfunctions syndrome 6 MMDS6; exhibits temperature-sensitive defect in presequence processing activity, when tested in yeast [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000626412 RCV002221567 rs146343535 VAR_080807 CA4418001 RCV001267318 |
201 | A>P | Multiple mitochondrial dysfunctions syndrome 6 Inborn genetic diseases MMDS6; exhibits temperature-sensitive defect in presequence processing activity, when tested in yeast [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs752266462 RCV001332395 CA4418188 |
363 | W>R | Multiple mitochondrial dysfunctions syndrome 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_080808 RCV000626415 rs1461200360 CA368738284 |
422 | I>T | Multiple mitochondrial dysfunctions syndrome 6 MMDS6; small decrease in protein level; impaired frataxin/FXN processing, leading to the accumulation of an intermediate form, called iFXN [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA4417768 rs759505735 |
2 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338791824 CA368733755 |
2 | A>T | No |
ClinGen TOPMed |
|
|
CA4417767 rs759505735 |
2 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs138251541 CA163861798 |
3 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4417769 rs752476926 |
3 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs138251541 CA4417770 |
3 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4417772 rs577306260 |
4 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373184669 CA163861813 |
4 | A>S | No |
ClinGen ESP |
|
|
CA163861806 rs373184669 |
4 | A>T | No |
ClinGen ESP |
|
|
CA4417771 rs577306260 |
4 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368733765 rs778469917 |
5 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs868653072 CA163861858 |
5 | A>P | No |
ClinGen Ensembl |
|
|
CA4417774 rs778469917 |
5 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs781686213 CA4417777 |
6 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4417776 rs769083664 |
6 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781686213 CA368733769 |
6 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368733770 rs903027246 |
7 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs903027246 CA163861905 |
7 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs773607958 CA368733778 |
8 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4417780 rs773607958 |
8 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs774432031 CA4417784 |
9 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs774432031 CA4417783 |
9 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4417782 rs201283176 |
9 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs933348532 CA163861924 |
10 | L>W | No |
ClinGen TOPMed |
|
|
CA4417787 rs760746927 |
11 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4417788 rs760746927 |
11 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563442587 CA368733794 |
12 | S>Y | No |
ClinGen Ensembl |
|
|
rs372942056 CA368733807 |
14 | A>G | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4417791 rs372942056 |
14 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs756873407 CA4417792 |
15 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257530513 CA368733811 |
15 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA368733808 rs756873407 |
15 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368733814 rs1162244086 |
16 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1168405825 CA368733818 |
17 | R>Q | No |
ClinGen gnomAD |
|
|
CA4417795 rs200262738 |
17 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779588615 CA4417796 |
18 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA163861995 rs1016300000 |
18 | L>R | No |
ClinGen Ensembl |
|
|
rs1440806807 CA368733839 |
20 | G>V | No |
ClinGen TOPMed |
|
|
rs371459598 CA368733849 |
22 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371459598 CA4417798 |
22 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368733861 rs1394430376 |
23 | E>D | No |
ClinGen gnomAD |
|
|
CA368733863 rs1297952711 |
24 | S>R | No |
ClinGen gnomAD |
|
|
rs1473832731 CA368733878 |
26 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4417799 rs373503982 |
27 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1226999830 CA368733889 |
28 | R>* | No |
ClinGen gnomAD |
|
|
rs749629917 CA368733890 |
28 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA4417800 rs749629917 |
28 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4417802 rs148700021 |
29 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772260124 CA4417804 |
30 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA368733897 rs772260124 |
30 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs775775729 CA4417805 |
30 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764137779 CA4417807 |
31 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4417809 rs761543693 |
32 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA368733914 rs1586034787 |
33 | R>P | No |
ClinGen Ensembl |
|
|
CA4417810 rs764893012 |
33 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 34 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 34 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs62622397 CA4417846 |
35 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368733957 rs1586036310 |
38 | G>E | No |
ClinGen Ensembl |
|
|
rs1448827787 CA368733974 |
40 | N>K | No |
ClinGen gnomAD |
|
|
rs374311302 CA4417847 |
40 | N>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA163863231 rs367832736 |
41 | R>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4417848 rs778705385 |
44 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778705385 CA368733998 |
44 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4417850 rs138186996 |
46 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4417849 rs138186996 |
46 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 47 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs11538298 CA163863256 |
50 | Q>E | No |
ClinGen TOPMed |
|
|
CA368734040 rs1586036381 |
51 | V>F | No |
ClinGen Ensembl |
|
|
rs1396690526 CA368734044 |
52 | V>F | No |
ClinGen gnomAD |
|
|
CA368734055 rs1171933088 |
54 | N>H | No |
ClinGen gnomAD |
|
|
rs150553593 CA4417854 |
56 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4417853 rs774018195 |
56 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766909577 CA4417855 |
57 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA368734080 rs1586036445 |
58 | T>P | No |
ClinGen Ensembl |
|
|
CA4417856 rs752322398 COSM1193347 |
65 | S>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs771850535 CA4417857 |
66 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765774845 CA4417858 |
67 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs374039954 CA4417860 |
68 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 68 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1586036500 CA368734162 |
70 | A>D | No |
ClinGen Ensembl |
|
|
CA4417861 COSM3431020 rs139269263 |
71 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4417862 rs751798654 |
74 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4417864 rs781117880 |
75 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368734199 rs1269121833 |
76 | L>P | No |
ClinGen gnomAD |
|
|
rs748274168 CA4417865 |
77 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368734213 rs1484750333 |
79 | C>G | No |
ClinGen gnomAD |
|
|
rs900291733 CA163864185 |
86 | D>Y | No |
ClinGen gnomAD |
|
|
rs201686193 CA163864188 |
88 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs777882922 CA4417887 |
88 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1372834506 CA368734290 |
89 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 90 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149259090 CA4417890 |
91 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749195582 CA4417888 |
91 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs771580457 CA4417892 |
92 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745676244 CA4417891 |
92 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs775228225 CA4417893 |
93 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4417894 rs199611544 |
94 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA163864227 rs369219886 |
96 | N>K | No |
ClinGen ESP TOPMed |
|
|
CA4417895 rs146216056 |
96 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4417896 rs776345549 |
97 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563443754 CA368734381 |
102 | F>S | No |
ClinGen Ensembl |
|
|
rs1273913073 CA368734394 |
104 | E>G | No |
ClinGen gnomAD |
|
|
rs1034870457 CA163864244 |
106 | M>R | No |
ClinGen Ensembl |
|
|
rs771526143 CA4417919 |
110 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA368734472 rs1434675084 |
113 | K>R | No |
ClinGen gnomAD |
|
|
rs202239518 CA4417922 |
119 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199863923 CA4417923 |
119 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA368734517 rs1301969485 |
120 | E>K | No |
ClinGen gnomAD |
|
|
rs371683587 CA163868034 |
121 | L>F | No |
ClinGen ESP TOPMed |
|
|
CA4417924 rs200425414 |
121 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA163868045 rs761593488 |
122 | E>A | No |
ClinGen TOPMed |
|
|
CA368734530 rs761593488 |
122 | E>G | No |
ClinGen TOPMed |
|
|
CA4417925 rs764318915 |
125 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA4417926 rs764318915 |
125 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200124606 CA4417929 |
126 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4417928 rs369213197 |
126 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757348017 CA4417927 |
126 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377051379 CA4417930 |
127 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs377051379 CA163868119 |
127 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA163868143 rs376623124 |
129 | H>Y | No |
ClinGen ESP TOPMed |
|
|
rs202160848 CA163868155 |
130 | L>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs369829969 CA163868161 |
132 | A>V | No |
ClinGen ESP gnomAD |
|
|
CA4417932 rs751325165 COSM302961 |
133 | Y>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1161403152 CA368734608 |
134 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 135 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368734619 rs1412838710 |
136 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 137 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143977339 CA4417933 |
137 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA368734630 rs1388827765 |
138 | Q>E | No |
ClinGen Ensembl |
|
|
CA368734641 rs747613494 |
139 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368734640 rs747613494 |
139 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747613494 CA4417935 |
139 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366756089 CA368734655 |
141 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA368734651 rs1294011738 |
141 | Y>S | No |
ClinGen gnomAD |
|
|
rs1289606404 CA368734659 |
142 | Y>C | No |
ClinGen gnomAD |
|
|
CA4417937 rs777191022 |
142 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs777191022 CA368734657 |
142 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1199064396 CA368734668 |
143 | A>V | No |
ClinGen gnomAD |
|
|
rs997112466 CA163868252 |
147 | S>P | No |
ClinGen Ensembl |
|
|
CA4417942 rs768813815 |
151 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374577288 CA163868265 |
151 | P>S | No |
ClinGen ESP gnomAD |
|
|
CA4417943 rs776808130 |
152 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4417944 rs762059961 |
153 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA368734745 rs1262480356 |
153 | A>V | No |
ClinGen TOPMed |
|
|
rs766291552 CA4417969 |
154 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs759589073 CA4417972 |
156 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4417975 rs755722460 |
160 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs148787640 CA368734787 |
160 | I>R | No |
ClinGen ESP gnomAD |
|
|
rs148787640 CA163871657 |
160 | I>T | No |
ClinGen ESP gnomAD |
|
|
rs760758172 CA163871656 |
160 | I>V | No |
ClinGen Ensembl |
|
|
rs763663536 CA4417976 |
161 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368734800 rs753336053 |
162 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151287650 CA163871719 |
165 | T>I | No |
ClinGen ESP TOPMed |
|
|
CA4417980 rs747504159 |
168 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs755548320 CA4417981 |
169 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA368734847 rs1459795553 |
169 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368734859 rs1405027331 |
171 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 172 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4417983 rs781469983 |
173 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4417984 rs139362551 |
173 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139362551 CA4417985 |
173 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4417988 rs770891746 |
176 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1436866272 CA368734895 |
177 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA368734893 rs1403512988 |
177 | V>I | No |
ClinGen gnomAD |
|
|
CA4417991 rs767564337 |
179 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775364630 CA4417993 |
180 | R>K | No |
ClinGen ExAC |
|
| TCGA novel | 183 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763994115 CA4417995 |
185 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753413503 CA4417996 |
187 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA4417997 rs756995826 |
188 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209603269 CA368734990 |
191 | E>* | No |
ClinGen gnomAD |
|
|
rs1248350863 CA368735018 |
195 | D>Y | No |
ClinGen gnomAD |
|
|
rs749942456 CA4417999 |
196 | Y>S | No |
ClinGen ExAC |
|
|
CA368735041 rs142466486 |
198 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142466486 CA4418000 |
198 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4418002 rs748505216 |
202 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4418003 rs375620217 |
204 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368735087 rs1171436185 |
205 | T>I | No |
ClinGen gnomAD |
|
|
CA368735093 rs1458432580 |
206 | A>G | No |
ClinGen gnomAD |
|
|
CA368735097 rs1370112232 |
207 | L>I | No |
ClinGen gnomAD |
|
|
rs145718159 CA4418007 |
209 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376730233 CA4418006 |
209 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368735119 rs1326082819 |
211 | I>T | No |
ClinGen gnomAD |
|
|
rs977280219 CA163871944 |
211 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 215 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368361253 CA4418008 |
215 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 217 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs914077424 CA163872452 |
219 | K>N | No |
ClinGen TOPMed |
|
|
CA4418037 rs149104855 COSM3777968 |
221 | I>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA163872454 rs1052478391 |
222 | S>N | No |
ClinGen TOPMed |
|
|
rs563490637 CA4418040 |
223 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4418039 rs563490637 |
223 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368735208 rs1249244764 |
223 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs563490637 CA4418038 |
223 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369398382 CA368735240 |
228 | D>Y | No |
ClinGen gnomAD |
|
|
rs772821429 CA4418043 |
229 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs890707827 CA163872531 |
232 | T>K | No |
ClinGen TOPMed |
|
| TCGA novel | 233 | H>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs943454537 CA163872534 |
233 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4418044 rs762643807 |
234 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 236 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765861199 CA4418045 |
238 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs751146952 CA368735314 |
239 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751146952 CA4418046 |
239 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368735312 rs1586043300 |
239 | I>V | No |
ClinGen Ensembl |
|
|
CA4418047 rs761018629 |
241 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs764672706 CA4418048 |
244 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs764465517 CA4418070 |
246 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764465517 CA4418069 |
246 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368735468 rs1231603115 |
248 | S>Y | No |
ClinGen TOPMed |
|
|
rs762472322 CA4418071 |
249 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA163875640 rs779274550 |
250 | D>V | No |
ClinGen Ensembl |
|
|
CA368735505 rs1414662315 |
253 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1260336341 CA368735500 |
253 | L>I | No |
ClinGen gnomAD |
|
|
CA163875698 rs921266184 |
256 | A>T | No |
ClinGen Ensembl |
|
|
CA368735535 rs1468386571 |
258 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA368735543 rs1161711281 |
259 | H>D | No |
ClinGen gnomAD |
|
|
CA4418076 rs751554433 |
261 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368735581 rs1229401304 |
264 | L>F | No |
ClinGen gnomAD |
|
|
rs1049828788 CA163875732 |
264 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1344341762 CA368735584 |
265 | C>R | No |
ClinGen gnomAD |
|
|
CA4418080 rs748064244 |
266 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756110770 CA4418081 |
267 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA368735603 rs141254128 |
268 | K>E | No |
ClinGen ESP gnomAD |
|
|
rs1330229428 CA368735607 |
268 | K>I | No |
ClinGen gnomAD |
|
|
CA163875741 rs141254128 |
268 | K>Q | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 268 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1315937748 CA368735620 |
270 | E>G | No |
ClinGen gnomAD |
|
|
CA4418082 rs77153349 |
271 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1473589304 CA368735635 |
272 | P>L | No |
ClinGen TOPMed |
|
|
CA4418085 rs774080956 |
276 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4418086 rs745542926 |
276 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA368735653 rs774080956 |
276 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 278 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409851271 CA368735669 |
278 | K>R | No |
ClinGen TOPMed |
|
|
rs771585036 CA4418088 |
279 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4418089 rs145484475 |
280 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs11538295 CA4418090 |
281 | G>R | No |
ClinGen ExAC gnomAD |
|
|
COSM75996 CA4418091 rs765855979 |
282 | S>T | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs771314986 CA4418111 |
285 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4418112 COSM3083751 rs774644370 |
285 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA368735725 rs771314986 |
285 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4418114 rs137928131 |
287 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752723439 CA4418115 |
287 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4418113 rs137928131 |
287 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4418116 rs760772242 |
291 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs891521710 CA163877373 |
292 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4418117 rs142471700 |
294 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368735812 rs1202651794 COSM1729521 |
298 | I>M | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs757195416 CA4418119 |
298 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368735817 rs1239496334 |
299 | A>G | No |
ClinGen gnomAD |
|
|
CA368735819 rs1266895708 |
300 | V>I | No |
ClinGen TOPMed |
|
|
rs750202405 CA4418121 |
301 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1178544928 CA368735837 |
302 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758022945 CA4418122 |
303 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA4418123 rs372917070 |
307 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1170466045 CA368735876 |
308 | P>L | No |
ClinGen gnomAD |
|
|
CA163877418 rs911168695 |
309 | D>G | No |
ClinGen Ensembl |
|
|
CA4418124 rs145931070 |
311 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1057797 CA163877430 |
312 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1057797 CA4418125 |
312 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368735913 rs1360474838 |
314 | M>K | No |
ClinGen gnomAD |
|
|
rs1360474838 CA368735912 |
314 | M>T | No |
ClinGen gnomAD |
|
|
rs780908639 CA4418126 |
315 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 317 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749797383 CA4418127 |
318 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4418130 rs139463753 |
320 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772238285 CA4418131 |
322 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368735981 rs994269867 |
324 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs775655777 CA4418132 |
325 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4418133 rs760931825 |
325 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1563448874 CA368735990 |
326 | S>F | No |
ClinGen Ensembl |
|
|
CA4418134 rs149419275 |
326 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1203302546 CA368735995 |
327 | F>S | No |
ClinGen gnomAD |
|
|
CA4418136 CA368735999 rs528116984 |
328 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528116984 CA4418137 |
328 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765111700 CA4418138 |
329 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 329 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765111700 CA4418139 |
329 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA368736009 rs1242692712 |
330 | G>R | No |
ClinGen gnomAD |
|
|
CA368736012 rs1490108937 |
330 | G>V | No |
ClinGen TOPMed |
|
|
rs1475050783 CA368736019 |
331 | M>I | No |
ClinGen gnomAD |
|
|
CA368736133 rs1266194339 |
332 | N>S | No |
ClinGen gnomAD |
|
|
CA368736157 rs1439147890 |
335 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4418170 rs755545589 |
336 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368736181 rs1586049597 |
338 | A>V | No |
ClinGen Ensembl |
|
|
CA4418174 rs371151128 |
339 | Q>R | No |
ClinGen ESP ExAC |
|
|
CA4418176 rs780342063 |
341 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA368736216 rs780342063 |
341 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs747401273 CA4418177 |
342 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA368736224 rs1301328499 |
342 | C>S | No |
ClinGen gnomAD |
|
|
rs768828351 CA4418178 |
343 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA368736234 rs1294550054 |
343 | H>Y | No |
ClinGen gnomAD |
|
|
CA4418179 rs776689813 |
345 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA4418180 rs763277777 |
345 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4418181 rs769751924 |
349 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 351 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163878446 rs1026668527 |
352 | S>F | No |
ClinGen TOPMed |
|
|
CA368736382 rs1360020821 |
354 | N>D | No |
ClinGen gnomAD |
|
|
CA368736385 rs1245184431 |
354 | N>S | No |
ClinGen gnomAD |
|
|
rs774238343 CA4418186 |
356 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4418185 rs774238343 |
356 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA368736457 rs1586049726 |
358 | T>A | No |
ClinGen Ensembl |
|
|
CA4418187 rs767385025 |
359 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA368736512 rs1249456427 |
360 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368736527 rs1202364076 |
361 | G>V | No |
ClinGen Ensembl |
|
|
CA368736579 rs1253356790 |
364 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 367 | M>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4418189 rs755850092 |
367 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368736711 rs1244165080 |
370 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 371 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753347444 CA4418191 |
372 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368736735 rs1351755443 |
373 | T>A | No |
ClinGen TOPMed |
|
|
rs368351310 CA4418192 |
374 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs117074402 CA4418193 |
375 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747559199 CA4418194 |
376 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4418197 rs748314137 |
377 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4418196 rs148598585 |
377 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755279410 CA4418195 |
377 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777654918 CA4418200 |
383 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA368736923 rs1227448311 |
384 | E>Q | No |
ClinGen gnomAD |
|
|
rs756239393 CA4418219 |
387 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778169897 CA4418220 COSM1725419 |
387 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA368737202 rs1259708576 |
388 | L>F | No |
ClinGen gnomAD |
|
|
rs1357870060 CA368737244 |
389 | C>* | No |
ClinGen TOPMed |
|
|
rs1481500486 CA368737231 |
389 | C>S | No |
ClinGen gnomAD |
|
|
CA163879511 rs746601562 |
390 | T>R | No |
ClinGen Ensembl |
|
|
CA163879514 rs771919850 |
391 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA368737401 rs1446788494 |
395 | S>C | No |
ClinGen TOPMed |
|
|
rs771111363 CA4418223 |
396 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA4418224 VAR_051572 CA368737432 rs3087615 |
396 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP |
|
|
CA4418225 rs745784155 |
398 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs566295319 CA4418227 |
399 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368737497 rs951007403 |
399 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs951007403 CA163879531 |
399 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA368737575 rs1586052283 |
402 | N>D | No |
ClinGen Ensembl |
|
|
rs1303239950 CA368737610 |
403 | L>P | No |
ClinGen gnomAD |
|
|
rs906354455 CA163879532 |
405 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4418230 rs760552155 |
408 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 408 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238959451 CA368737737 |
408 | M>T | No |
ClinGen gnomAD |
|
|
rs984077616 CA163879553 |
408 | M>V | No |
ClinGen TOPMed |
|
|
rs34011085 CA368737903 |
413 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA163879571 rs34011085 |
413 | D>N | No |
ClinGen TOPMed |
|
|
rs758231165 CA4418247 |
414 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs184313811 CA4418248 |
416 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368738142 rs1236164494 |
416 | T>S | No |
ClinGen gnomAD |
|
|
CA163879747 rs775637308 |
417 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4418249 rs746973010 |
417 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA368738178 rs1403161463 |
418 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA163879761 rs978470996 |
419 | C>S | No |
ClinGen gnomAD |
|
|
rs776477413 CA4418251 |
432 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs140782949 CA163879768 |
433 | I>S | No |
ClinGen ESP |
|
|
rs1563450588 CA368738651 |
434 | P>S | No |
ClinGen Ensembl |
|
|
CA368738721 rs1216344061 |
437 | E>Q | No |
ClinGen gnomAD |
|
|
rs769451629 CA4418253 |
438 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4418254 rs772550054 |
439 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA368738840 rs1586052815 |
442 | I>T | No |
ClinGen Ensembl |
|
|
CA163879786 rs965228267 |
443 | D>A | No |
ClinGen TOPMed |
|
|
CA368738877 rs1197006768 |
443 | D>E | No |
ClinGen gnomAD |
|
|
rs770460767 CA4418278 |
445 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4418279 rs144744182 |
446 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368738967 rs144744182 |
446 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs564001409 CA163879989 |
448 | E>D | No |
ClinGen 1000Genomes |
|
|
rs764708187 CA368739014 |
449 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4418281 rs764708187 |
449 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA4418282 rs560868240 |
451 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4418283 rs372983112 |
451 | R>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4418286 rs758619180 |
452 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528158073 CA4418285 |
452 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368739065 rs1310235397 |
453 | V>E | No |
ClinGen TOPMed |
|
|
CA4418287 rs540342273 |
453 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368739073 rs1423529709 |
454 | C>F | No |
ClinGen gnomAD |
|
|
CA368739084 rs1354506354 |
455 | T>A | No |
ClinGen gnomAD |
|
|
CA368739099 rs1402926253 |
456 | K>T | No |
ClinGen gnomAD |
|
|
CA368739113 rs1231218807 |
457 | Y>C | No |
ClinGen gnomAD |
|
|
rs1290041341 CA368739142 |
459 | Y>C | No |
ClinGen gnomAD |
|
|
CA4418288 rs559942322 |
462 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368739190 rs559942322 |
462 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1398167943 CA368739848 |
464 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1398167943 CA368739849 |
464 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs528042038 CA163880038 |
464 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 466 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368739887 rs1346349614 |
468 | V>A | No |
ClinGen gnomAD |
|
|
rs781140984 CA4418290 |
469 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163880043 rs781140984 |
469 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs530790514 | 481 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with O75439
[MIM: 617954]: Multiple mitochondrial dysfunctions syndrome 6 (MMDS6)
An autosomal recessive, neurodegenerative disorder characterized by basal ganglia lesions, cerebellar atrophy, and neurologic regression in the first year of life. Common features include truncal hypotonia, lack of independent ambulation, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. {ECO:0000269|PubMed:29576218}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive, neurodegenerative disorder characterized by basal ganglia lesions, cerebellar atrophy, and neurologic regression in the first year of life. Common features include truncal hypotonia, lack of independent ambulation, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. {ECO:0000269|PubMed:29576218}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.24.64 | Metalloendopeptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial processing peptidase complex | A protein complex consisting of a regulatory subunit (alpha-MPP) and a catalytic subunit (beta-MPP) that catalyzes the release of N-terminal targeting peptides from precursor proteins imported into the mitochondrion. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| mitochondrial calcium ion transmembrane transport | The process in which a calcium ion (Ca2+) is transported across a mitochondrial membrane, into or out of the mitochondrion. |
| protein processing involved in protein targeting to mitochondrion | The cleavage of peptide bonds in proteins, usually near the N terminus, contributing to the process of import into the mitochondrion. Several different peptidases mediate cleavage of proteins destined for different mitochondrial compartments. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAAARVVL | SSAARRRLWG | FSESLLIRGA | AGRSLYFGEN | RLRSTQAATQ | VVLNVPETRV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TCLESGLRVA | SEDSGLSTCT | VGLWIDAGSR | YENEKNNGTA | HFLEHMAFKG | TKKRSQLDLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LEIENMGAHL | NAYTSREQTV | YYAKAFSKDL | PRAVEILADI | IQNSTLGEAE | IERERGVILR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EMQEVETNLQ | EVVFDYLHAT | AYQNTALGRT | ILGPTENIKS | ISRKDLVDYI | TTHYKGPRIV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LAAAGGVSHD | ELLDLAKFHF | GDSLCTHKGE | IPALPPCKFT | GSEIRVRDDK | MPLAHLAIAV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EAVGWAHPDT | ICLMVANTLI | GNWDRSFGGG | MNLSSKLAQL | TCHGNLCHSF | QSFNTSYTDT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GLWGLYMVCE | SSTVADMLHV | VQKEWMRLCT | SVTESEVARA | RNLLKTNMLL | QLDGSTPICE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DIGRQMLCYN | RRIPIPELEA | RIDAVNAETI | REVCTKYIYN | RSPAIAAVGP | IKQLPDFKQI |
| RSNMCWLRD |