Q8WWC4
Gene name |
MAIP1 |
Protein name |
m-AAA protease-interacting protein 1, mitochondrial |
Names |
Matrix AAA peptidase-interacting protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79568 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8WWC4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8WWC4-F1 | Predicted | AlphaFoldDB |
234 variants for Q8WWC4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs533750912 CA2046739 |
5 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748413044 CA2046737 |
5 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2046738 rs533750912 |
5 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747358230 CA2046740 |
6 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350221925 rs747358230 |
6 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2046742 rs771610145 |
7 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs777192025 CA2046743 |
7 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs762429046 CA2046744 |
8 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773670429 CA2046746 |
9 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138114112 CA2046745 |
9 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350221965 rs138114112 |
9 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767106251 CA63771135 |
10 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767106251 CA2046748 |
10 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350221988 rs1395908084 |
10 | Q>R | No |
ClinGen gnomAD |
|
|
CA350222012 rs1429406346 |
11 | F>C | No |
ClinGen gnomAD |
|
|
rs201435155 CA63771174 |
11 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2046750 rs755871913 |
14 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2046751 rs766367458 |
15 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2046753 rs753797211 |
15 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753797211 CA350222081 |
15 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753797211 CA2046752 |
15 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452572669 CA350222654 |
16 | S>L | No |
ClinGen TOPMed |
|
|
CA350222653 rs1452572669 |
16 | S>W | No |
ClinGen TOPMed |
|
|
CA350222663 rs1352645245 |
18 | P>S | No |
ClinGen gnomAD |
|
|
rs201104497 CA2046757 |
19 | C>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 20 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776804166 CA2046761 |
23 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1252442156 CA350222704 |
25 | R>Q | No |
ClinGen gnomAD |
|
|
rs1181072991 CA350222711 |
26 | T>S | No |
ClinGen gnomAD |
|
|
rs781313834 CA63771289 |
27 | P>T | No |
ClinGen Ensembl |
|
|
rs770161992 CA2046764 |
28 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA63771314 rs943915480 |
28 | A>V | No |
ClinGen Ensembl |
|
|
rs773932475 CA2046765 |
29 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350222729 rs1465989787 |
30 | A>D | No |
ClinGen gnomAD |
|
|
CA63771327 rs1040987516 |
30 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA63771329 rs897119910 |
31 | E>K | No |
ClinGen Ensembl |
|
|
rs1162316580 CA350222742 |
32 | V>A | No |
ClinGen TOPMed |
|
|
CA63771338 rs994200441 |
32 | V>M | No |
ClinGen gnomAD |
|
|
CA63771366 rs1027053468 |
35 | P>L | No |
ClinGen gnomAD |
|
|
rs781492723 CA2046766 |
35 | P>L | No |
ClinGen ExAC |
|
|
rs1415868522 CA350222758 |
35 | P>S | No |
ClinGen TOPMed |
|
|
CA350222764 rs1346388119 |
36 | S>L | No |
ClinGen gnomAD |
|
|
rs1574817682 CA350222771 |
37 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 38 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574817689 CA350222773 |
38 | T>P | No |
ClinGen Ensembl |
|
|
rs772846285 CA63771394 |
40 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772846285 CA2046769 |
40 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350222797 rs1276652482 |
41 | Y>* | No |
ClinGen gnomAD |
|
|
rs760516868 CA2046770 |
42 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs367784377 CA2046771 |
44 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA63771459 rs143660857 |
45 | C>Y | No |
ClinGen ESP |
|
|
rs753507356 CA2046772 |
46 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753507356 CA63771474 |
46 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350222830 rs1266078180 |
47 | L>V | No |
ClinGen gnomAD |
|
|
CA2046775 rs752867183 |
48 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs998556244 CA63771512 |
50 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758551827 CA350222856 |
51 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1031278860 CA63771516 |
51 | A>T | No |
ClinGen Ensembl |
|
|
rs758551827 CA2046776 |
51 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350222879 rs1366525258 |
55 | P>A | No |
ClinGen gnomAD |
|
|
CA350222880 rs1366525258 |
55 | P>S | No |
ClinGen gnomAD |
|
|
rs751845535 CA350222885 |
56 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA350222897 rs1291964876 |
58 | A>T | No |
ClinGen gnomAD |
|
|
CA2046779 rs757489865 |
59 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1382827507 CA350222904 |
59 | R>K | No |
ClinGen gnomAD |
|
|
CA350222914 rs1362939086 |
60 | A>V | No |
ClinGen gnomAD |
|
|
rs1315484960 CA350222915 |
61 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2046782 rs770380935 |
62 | A>T | No |
ClinGen ExAC |
|
|
rs114873804 CA2046783 |
62 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1244890408 CA350222930 |
63 | A>V | No |
ClinGen gnomAD |
|
|
rs747722514 CA2046784 |
64 | S>L | No |
ClinGen ExAC TOPMed |
|
|
rs1264459116 CA350222946 |
66 | L>P | No |
ClinGen gnomAD |
|
|
CA2046787 rs760322371 |
67 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200309615 CA63771610 |
68 | A>T | No |
ClinGen Ensembl |
|
|
CA2046788 rs376647442 |
69 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376647442 CA350222961 |
69 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2046789 rs776541062 |
70 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2046792 rs752672763 |
72 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2046791 rs114393899 |
72 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2046795 rs764274752 |
74 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350223001 rs1559311044 |
76 | L>F | No |
ClinGen Ensembl |
|
|
CA350223015 rs1386469445 |
78 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350223018 rs1434308010 |
78 | S>T | No |
ClinGen gnomAD |
|
|
CA2046796 rs751651362 |
79 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA350223058 rs1488835295 |
82 | P>L | No |
ClinGen TOPMed |
|
|
CA350223074 rs1311635441 |
84 | A>P | No |
ClinGen gnomAD |
|
|
rs1229792622 CA350223093 |
85 | F>L | No |
ClinGen gnomAD |
|
|
rs560623066 CA2046798 |
88 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1464019879 CA350223139 |
90 | A>P | No |
ClinGen gnomAD |
|
|
rs527943270 CA2046799 |
92 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350223172 rs1559311088 |
93 | Q>* | No |
ClinGen Ensembl |
|
|
rs1346099026 CA350223215 |
96 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1346099026 CA350223213 |
96 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA350223231 rs1180476189 |
97 | S>R | No |
ClinGen gnomAD |
|
|
rs1282219268 CA350223243 |
98 | T>M | No |
ClinGen TOPMed |
|
|
rs780668557 CA2046802 |
99 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350223306 rs1392302412 |
102 | P>H | No |
ClinGen TOPMed |
|
|
rs140070270 CA2046803 |
103 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2046804 rs769081538 |
104 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769081538 CA63771782 |
104 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA63771811 rs911024862 |
106 | Q>R | No |
ClinGen gnomAD |
|
|
CA2046806 rs746471724 |
107 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA350223443 rs1345643977 |
109 | K>E | No |
ClinGen TOPMed |
|
|
CA2046807 rs564384653 |
109 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776147130 CA2046808 |
110 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs759438298 CA2046809 |
111 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs116182492 CA2046810 |
114 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1041347640 CA63771864 |
115 | F>C | No |
ClinGen gnomAD |
|
|
CA350223540 rs1041347640 |
115 | F>S | No |
ClinGen gnomAD |
|
|
rs763017385 CA2046812 |
117 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1314466894 CA350223588 |
118 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA63771873 rs778668741 |
119 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 121 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761766581 CA2046816 |
124 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA350223692 rs767845669 |
125 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs750596379 CA2046819 |
127 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs750596379 CA2046818 |
127 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA350223725 rs1427518137 |
127 | K>N | No |
ClinGen TOPMed |
|
|
rs202128623 CA2046821 |
129 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1412715236 CA350223775 |
131 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 131 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2046822 rs755495820 |
133 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2046823 rs779364305 |
134 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746598091 CA2046824 |
135 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA63771958 rs906679743 |
136 | D>E | No |
ClinGen TOPMed |
|
|
CA2046826 rs368017643 |
136 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2046825 rs756709016 |
136 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs745516138 CA2046828 |
137 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA350223876 rs1218011498 |
137 | K>N | No |
ClinGen gnomAD |
|
|
rs1278497547 CA350223892 |
138 | E>G | No |
ClinGen gnomAD |
|
|
rs1278497547 CA350223888 |
138 | E>V | No |
ClinGen gnomAD |
|
|
rs1272832258 CA350223948 |
142 | T>A | No |
ClinGen gnomAD |
|
|
rs1225060660 CA350223952 |
142 | T>I | No |
ClinGen gnomAD |
|
|
CA2046830 rs769451930 |
143 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775450822 COSM345267 CA2046831 |
146 | E>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 146 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139414213 CA2046832 |
148 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA63772001 rs1031665747 |
150 | Q>* | No |
ClinGen Ensembl |
|
|
CA63772004 rs956983685 |
150 | Q>R | No |
ClinGen Ensembl |
|
|
rs1450002002 CA350224141 |
151 | A>S | No |
ClinGen gnomAD |
|
|
rs1450002002 CA350224137 |
151 | A>T | No |
ClinGen gnomAD |
|
|
rs765792359 CA2046845 |
151 | A>V | No |
ClinGen ExAC |
|
|
rs753158029 CA2046846 |
153 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA350224179 rs1347855187 |
154 | H>Q | No |
ClinGen TOPMed |
|
|
CA350224174 rs1466209644 |
154 | H>R | No |
ClinGen gnomAD |
|
|
rs868547638 CA63774042 |
154 | H>Y | No |
ClinGen Ensembl |
|
|
rs1472984935 CA350224227 |
159 | L>P | No |
ClinGen gnomAD |
|
|
CA350224264 rs1574820322 |
163 | K>Q | No |
ClinGen Ensembl |
|
|
CA350224281 rs1363495298 |
164 | F>C | No |
ClinGen TOPMed |
|
|
CA350224314 rs1411160333 |
168 | E>K | No |
ClinGen gnomAD |
|
|
CA350224332 rs1404312428 |
169 | E>G | No |
ClinGen gnomAD |
|
|
rs1269905243 CA350224340 |
170 | L>F | No |
ClinGen TOPMed |
|
|
rs1320641047 CA350224344 |
170 | L>P | No |
ClinGen gnomAD |
|
|
CA2046849 rs745337503 |
173 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319099614 CA350224383 |
174 | E>G | No |
ClinGen gnomAD |
|
|
rs1279831465 CA350224450 |
177 | H>R | No |
ClinGen gnomAD |
|
|
rs1302471441 CA350224487 |
181 | E>K | No |
ClinGen TOPMed |
|
|
CA350224514 rs753070404 |
183 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 183 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350224512 rs753070404 |
183 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2046863 rs753070404 |
183 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2046864 rs150048783 |
184 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2046865 rs764643111 |
187 | P>S | No |
ClinGen ExAC TOPMed |
|
|
rs1344688018 CA350224562 |
188 | D>V | No |
ClinGen TOPMed |
|
|
rs1451819016 CA350224557 |
188 | D>Y | No |
ClinGen TOPMed |
|
|
CA63774420 rs986786472 |
190 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2046867 rs755678591 |
190 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1345630694 CA350224618 |
193 | A>T | No |
ClinGen gnomAD |
|
|
COSM1014632 rs1403015180 CA350224625 |
193 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA350224631 rs1393788442 |
194 | L>F | No |
ClinGen TOPMed |
|
|
rs377269745 CA2046869 |
195 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2046870 rs368436352 |
197 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs747927542 CA2046872 |
198 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2046871 rs778604035 |
198 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2046873 rs771950552 |
201 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs200945856 CA2046874 |
204 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377642335 CA350224760 |
206 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 208 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765727760 CA2046876 |
209 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs747152048 CA2046875 |
209 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs940123362 CA63774503 |
210 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA350224804 rs1272382659 |
211 | I>V | No |
ClinGen gnomAD |
|
|
rs759785130 CA2046878 |
212 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1004948494 CA63774519 |
212 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs769958661 CA2046879 |
213 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2046881 rs375544417 |
215 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350224853 rs1331700006 |
215 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA63774544 rs1037804279 |
216 | K>T | No |
ClinGen Ensembl |
|
| TCGA novel | 217 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2046899 rs763283220 |
218 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769075871 CA2046900 |
218 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1425796260 TCGA novel CA350226106 |
218 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
CA350226127 rs1180631666 |
219 | K>N | No |
ClinGen TOPMed |
|
|
rs1291877038 CA350226160 |
221 | V>I | No |
ClinGen gnomAD |
|
|
rs977692502 CA63775861 |
222 | N>Y | No |
ClinGen Ensembl |
|
|
rs774786100 CA2046902 |
225 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA2046903 rs372424449 |
226 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776329944 CA2046905 |
231 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs752410100 CA350226345 |
234 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2046908 rs752410100 |
234 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2046909 rs147805097 |
237 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763981865 CA2046911 |
240 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1319390429 CA350226402 |
240 | L>V | No |
ClinGen TOPMed |
|
|
rs1250435567 CA350226432 |
243 | A>G | No |
ClinGen gnomAD |
|
|
rs1574821757 CA350226442 |
244 | S>I | No |
ClinGen Ensembl |
|
|
CA2046913 rs757238753 |
247 | Q>* | No |
ClinGen ExAC |
|
|
CA350226478 rs1186305128 |
247 | Q>L | No |
ClinGen gnomAD |
|
|
rs912238658 CA63775926 |
248 | V>I | No |
ClinGen TOPMed |
|
|
CA2046915 rs376452416 |
259 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs971355743 CA63775944 |
262 | S>T | No |
ClinGen Ensembl |
|
|
rs1457817081 CA350226619 |
263 | A>T | No |
ClinGen gnomAD |
|
|
CA2046916 rs756203672 |
264 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA63775989 rs146994812 |
266 | E>G | No |
ClinGen ESP |
|
|
CA350226672 rs1291566688 |
268 | Q>R | No |
ClinGen TOPMed |
|
|
rs749274744 CA2046936 |
269 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs755276377 CA2046937 |
270 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1285941828 CA350226704 |
273 | Q>* | No |
ClinGen gnomAD |
|
|
CA2046939 rs748588415 |
273 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs373907210 CA2046941 |
274 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2046940 rs373907210 |
274 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350226743 rs1279973138 |
279 | W>* | No |
ClinGen gnomAD |
|
|
rs775115912 CA2046944 |
279 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA350226762 rs1385058236 |
281 | I>M | No |
ClinGen TOPMed |
|
|
CA350226760 rs1467567350 |
281 | I>T | No |
ClinGen Ensembl |
|
|
CA350226766 rs1469660172 |
282 | A>G | No |
ClinGen gnomAD |
|
|
CA2046947 rs140885188 |
282 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs115358893 CA2046949 |
283 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs115358893 CA2046950 |
283 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2046948 rs377424592 |
283 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1014635 CA63777376 rs1048972908 |
285 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA350226789 rs1490252519 |
286 | H>L | No |
ClinGen gnomAD |
|
|
VAR_034911 CA2046953 rs2118548 |
290 | L>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA350226831 rs1184049618 |
292 | E>L | No |
ClinGen TOPMed |
No associated diseases with Q8WWC4
No regional properties for Q8WWC4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8WWC4 | |||
2 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 matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| ribosome binding | Binding to a ribosome. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium import into the mitochondrion | A process in which a calcium ion (Ca2+) is transported from the cytosol into the mitochondrial matrix. |
| inner mitochondrial membrane organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the mitochondrial inner membrane. |
| mitochondrial calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings. |
| protein insertion into mitochondrial inner membrane from matrix | The process in which a protein is incorporated into the mitochondrial inner membrane from the matrix side. This includes membrane insertion of newly synthesized mitochondrially-encoded proteins, and insertion of nuclear-encoded proteins after their import into the mitochondrial matrix. |
| protein insertion into mitochondrial membrane | The process that results in the incorporation of a protein into a mitochondrial membrane. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALAARLLPQ | FLHSRSLPCG | AVRLRTPAVA | EVRLPSATLC | YFCRCRLGLG | AALFPRSARA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LAASALPAQG | SRWPVLSSPG | LPAAFASFPA | CPQRSYSTEE | KPQQHQKTKM | IVLGFSNPIN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WVRTRIKAFL | IWAYFDKEFS | ITEFSEGAKQ | AFAHVSKLLS | QCKFDLLEEL | VAKEVLHALK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EKVTSLPDNH | KNALAANIDE | IVFTSTGDIS | IYYDEKGRKF | VNILMCFWYL | TSANIPSETL |
| 250 | 260 | 270 | 280 | 290 | |
| RGASVFQVKL | GNQNVETKQL | LSASYEFQRE | FTQGVKPDWT | IARIEHSKLL | E |