Q7Z434
EV
Gene name |
MAVS |
Protein name |
Mitochondrial antiviral-signaling protein |
Names |
MAVS, CARD adapter inducing interferon beta, Cardif, Interferon beta promoter stimulator protein 1, IPS-1, Putative NF-kappa-B-activating protein 031N, Virus-induced-signaling adapter, VISA |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57506 |
EC number |
|
Protein Class |
DUF3504 DOMAIN-CONTAINING PROTEIN (PTHR21446) |
Descriptions
MAVS (also known as IPS-1, VISA and CARDIF), located mostly on mitochondrial outer membrane, plays a critical role in antiviral innate immune signaling. On viral infection, RIG-I induces MAVS to form prion-like filaments through its N-terminal CARD domain. MAVS filament is a potent activator for downstream signaling effectors, such as inhibitor of kappa B kinase (IKK) and TBK1, which is mediated by multiple TRAFs. MAVS is composed of three active regions: NF-κB-stimulating Region I and Region II and the IRF3-stimulating Region III. The activity of MAVS Region III is inhibited by leading regions 141-200 and 251-300 in its quiescent state. The two regions (141-200 residues and 251-300 residues) could inhibit Region III (401-450) independently. Also, deletion of either 141-200 or 251-300 alone did not lead to MAVS activation in stimulating ISRE, suggesting a two-layered inhibition to Region III.
Autoinhibitory domains (AIDs)
Target domain |
401-450 (Region III) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay |
Target domain |
401-450 (Region III) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
11 structures for Q7Z434
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2MS7 | NMR | - | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U | 1-100 | PDB |
| 2MS8 | NMR | - | A | 1-100 | PDB |
| 2VGQ | X-ray | 210 A | A | 1-93 | PDB |
| 3J6C | EM | 960 A | A | 3-93 | PDB |
| 3J6J | EM | 364 A | A/B/C/D/E/G/I/L | 1-97 | PDB |
| 3RC5 | X-ray | 160 A | B | 502-508 | PDB |
| 4P4H | X-ray | 340 A | I/J/K/L/M/N/O/P | 1-99 | PDB |
| 4Z8M | X-ray | 295 A | C/D | 450-468 | PDB |
| 5JEK | X-ray | 240 A | C/D | 433-448 | PDB |
| 7DNI | EM | 320 A | M/N/O/P | 1-97 | PDB |
| AF-Q7Z434-F1 | Predicted | AlphaFoldDB |
450 variants for Q7Z434
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9749929 rs201109202 |
2 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9749928 rs776041423 |
2 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA408116266 rs1331703637 |
5 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs927279885 CA311062202 |
6 | D>E | No |
ClinGen Ensembl |
|
|
rs774928934 CA9749931 |
7 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9749933 rs139701251 |
8 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749871584 CA9749935 |
9 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9749934 rs555787558 |
9 | Y>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749871584 CA9749936 |
9 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs936262871 CA311062261 |
10 | K>M | No |
ClinGen TOPMed |
|
|
CA9749939 rs754701399 |
12 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA9749938 rs753700333 |
12 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749941 rs376282820 |
14 | R>C | No |
ClinGen ESP TOPMed |
|
|
CA9749943 rs752580355 |
14 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752580355 CA408116493 |
14 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311062308 rs569887649 |
15 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA9749944 rs569887649 |
15 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9749945 rs781370918 |
18 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749946 rs745910663 |
18 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1304531522 CA408116635 |
20 | C>S | No |
ClinGen TOPMed |
|
|
rs749688035 CA9749949 |
23 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9749948 rs780360913 |
23 | D>H | No |
ClinGen ExAC |
|
|
rs891960914 CA408116810 |
28 | L>V | No |
ClinGen gnomAD |
|
|
rs1306647775 CA408116838 |
30 | Y>H | No |
ClinGen gnomAD |
|
|
CA9749951 rs775031370 |
31 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs775031370 CA311062367 |
31 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA311062377 rs1051254153 |
32 | P>L | No |
ClinGen Ensembl |
|
|
CA311062383 rs890916750 |
35 | T>S | No |
ClinGen Ensembl |
|
|
CA9749954 rs772837486 |
38 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9749972 rs200861245 |
41 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9749973 rs200238521 |
41 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408118364 rs759224829 |
43 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749975 rs759224829 |
43 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149764765 CA9749974 |
43 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA311065201 rs946873338 |
44 | A>D | No |
ClinGen TOPMed |
|
|
rs775410649 COSM1026762 CA408118375 |
44 | A>P | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs775410649 CA9749977 |
44 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9749979 rs764110636 |
45 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9749980 rs375715742 |
47 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1426876515 CA408118494 |
48 | L>R | No |
ClinGen gnomAD |
|
|
rs766608975 CA9749982 |
50 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA408118608 rs1468044678 |
52 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs370970889 CA9749983 |
52 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9749984 rs375662718 |
53 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753111222 CA9749986 |
57 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA311065254 rs999261113 |
58 | L>F | No |
ClinGen TOPMed |
|
|
CA9749987 rs758631827 |
58 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA408118788 rs1359408830 |
60 | N>Y | No |
ClinGen gnomAD |
|
|
CA9749988 rs778365546 |
61 | T>A | No |
ClinGen ExAC |
|
|
CA408118820 rs901482417 |
61 | T>I | No |
ClinGen TOPMed |
|
|
CA311065262 rs901482417 |
61 | T>N | No |
ClinGen TOPMed |
|
|
rs200408454 CA408118866 |
64 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs200408454 CA9749989 |
64 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408118861 rs1301366144 |
64 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9749991 rs780728076 |
65 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9749990 rs78448735 |
65 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142867936 CA9749993 |
67 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs952046581 CA311065290 |
68 | W>C | No |
ClinGen TOPMed |
|
|
CA9749995 rs762833181 |
69 | V>G | No |
ClinGen ExAC |
|
|
COSM1026763 CA9749994 rs774934668 |
69 | V>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs768299754 CA9749996 |
70 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs984679015 CA311065316 |
71 | Y>C | No |
ClinGen gnomAD |
|
|
rs1301928653 CA408119015 |
71 | Y>D | No |
ClinGen TOPMed |
|
|
CA408119013 rs1301928653 |
71 | Y>H | No |
ClinGen TOPMed |
|
|
CA408119033 rs1481434034 |
72 | F>V | No |
ClinGen gnomAD |
|
|
CA9749997 rs774168436 |
73 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201308621 CA9749998 |
74 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1404641650 CA408119063 |
75 | A>S | No |
ClinGen TOPMed |
|
|
CA9750001 rs370773994 |
78 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs943525038 CA311065354 |
78 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9750003 rs11905552 |
79 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34591263 CA311065370 |
79 | C>I | No |
ClinGen Ensembl |
|
|
rs11905552 CA311065376 |
79 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9750002 rs11908032 |
79 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1282625758 CA408119105 |
82 | V>A | No |
ClinGen gnomAD |
|
|
CA9750006 rs751897047 |
85 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9750007 rs757816931 |
85 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745383241 CA9750009 |
86 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs779790751 CA9750011 |
87 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs769249213 CA9750010 |
87 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174928181 CA408119139 |
88 | V>L | No |
ClinGen TOPMed |
|
|
rs748935673 CA408119148 |
89 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408119146 rs1473208492 |
89 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs748935673 CA9750012 |
89 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408119164 rs1212230200 |
92 | Y>C | No |
ClinGen TOPMed |
|
|
CA408119169 rs17857295 |
93 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs17857295 CA9750013 |
93 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs17857295 CA9750014 |
93 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144883420 CA311065529 |
93 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1400459037 CA408119182 |
95 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA408119192 rs1165102122 |
96 | Q>K | No |
ClinGen gnomAD |
|
|
CA9750015 rs367892824 |
97 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408119202 rs367892824 |
97 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs576661368 CA9750017 |
98 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1328395123 CA408121200 |
100 | S>L | No |
ClinGen TOPMed |
|
|
rs1365352559 CA408121215 |
101 | D>A | No |
ClinGen gnomAD |
|
|
rs200118692 CA9750074 |
102 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1196451 rs779024807 CA9750075 |
102 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs200118692 CA408121226 |
102 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9750077 rs772287184 |
104 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA408121269 rs1406337501 |
104 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA311077006 rs1022155219 |
107 | L>P | No |
ClinGen Ensembl |
|
|
rs200572203 CA311077014 |
108 | E>Q | No |
ClinGen TOPMed |
|
|
CA9750079 rs554505664 |
110 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771288502 CA9750080 |
111 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs776829070 CA9750081 |
113 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs149070096 CA9750082 |
116 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9750083 rs376017077 |
117 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408121556 rs1490031418 |
119 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408121553 rs1288984151 |
119 | P>S | No |
ClinGen gnomAD |
|
|
CA9750086 rs369993378 |
122 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9750087 rs762482662 |
122 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA408121606 rs369993378 |
122 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9750088 rs144671697 |
124 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781093718 CA9750091 |
128 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408121801 rs1299292905 |
131 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA311077110 rs976811318 |
133 | C>Y | No |
ClinGen Ensembl |
|
|
CA408121859 rs756113100 |
134 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756113100 CA9750093 |
134 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408121952 rs779903870 |
137 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA9750094 rs779903870 |
137 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9750095 rs748241941 |
138 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9750096 rs374414172 |
141 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747295415 CA408122150 |
142 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747295415 CA9750098 |
142 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750097 rs142912254 |
142 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1433144917 CA408122188 |
144 | V>I | No |
ClinGen TOPMed |
|
|
rs771036604 CA9750099 |
145 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9750100 rs777110264 |
145 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9750101 rs45563035 |
147 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9750102 rs770426401 |
148 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9750103 rs776080116 |
149 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910124294 CA311077202 |
152 | S>C | No |
ClinGen Ensembl |
|
|
rs763654548 CA9750107 |
155 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750108 rs148384223 |
155 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9750128 rs767215611 |
160 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9750129 rs772803278 |
160 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9750130 rs760494281 |
161 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs753609522 CA9750132 |
162 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs141567699 CA9750133 |
163 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141567699 CA9750134 |
163 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377159593 CA311077935 |
168 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1160901424 CA408123707 |
169 | I>F | No |
ClinGen gnomAD |
|
|
rs1568536745 CA408123727 |
170 | P>R | No |
ClinGen Ensembl |
|
|
rs1343059855 CA408123762 |
172 | N>S | No |
ClinGen gnomAD |
|
|
rs1452512316 CA408123801 |
174 | D>E | No |
ClinGen gnomAD |
|
|
rs1303237306 CA408123819 |
175 | G>V | No |
ClinGen gnomAD |
|
|
rs1403059617 CA408123853 |
177 | P>L | No |
ClinGen gnomAD |
|
|
rs143917056 CA408123881 |
179 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143917056 CA9750140 |
179 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374107778 CA9750141 |
181 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1464992894 CA408124017 |
185 | A>V | No |
ClinGen TOPMed |
|
|
rs1269441412 CA408124020 |
186 | A>T | No |
ClinGen TOPMed |
|
|
CA9750143 rs779234123 |
186 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1206774160 CA408124086 |
189 | P>S | No |
ClinGen TOPMed |
|
|
COSM1533316 CA9750145 rs771443475 |
190 | L>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs766067794 CA311077963 |
194 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs76715450 CA9750147 |
194 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766067794 CA408124183 |
194 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408124212 rs1406158885 |
196 | Q>R | No |
ClinGen gnomAD |
|
|
CA9750151 rs7262903 |
198 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs7262903 CA9750150 |
198 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765232817 CA9750152 |
199 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1207080721 CA408124305 |
200 | T>I | No |
ClinGen gnomAD |
|
|
CA311078008 rs1028776471 |
202 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9750154 rs142678996 |
208 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767530905 CA9750155 |
209 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs372329473 CA9750174 |
210 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372329473 CA9750175 |
210 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9750176 rs764125605 |
211 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600453786 CA408125749 |
211 | T>P | No |
ClinGen Ensembl |
|
|
rs750538258 CA9750177 |
212 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9750179 rs766733618 |
213 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600453813 CA408125809 |
215 | T>P | No |
ClinGen Ensembl |
|
|
rs1184764982 CA408125846 |
217 | S>C | No |
ClinGen gnomAD |
|
|
rs45437096 CA9750182 |
218 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9750183 rs45437096 |
218 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9750184 rs201367137 |
218 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs993212933 CA408125933 |
223 | P>A | No |
ClinGen TOPMed |
|
|
rs993212933 CA311079135 |
223 | P>S | No |
ClinGen TOPMed |
|
|
CA408125966 rs778184452 |
226 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9750185 rs778184452 |
226 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs778184452 CA9750186 |
226 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA408125971 rs1333716409 |
227 | F>L | No |
ClinGen gnomAD |
|
|
CA9750187 rs756707640 |
230 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs368462656 CA9750189 |
232 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9750190 rs201823260 |
232 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9750191 rs201823260 |
232 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749048849 CA9750192 |
233 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9750194 rs768731417 |
234 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408126094 rs1568537453 |
234 | T>P | No |
ClinGen Ensembl |
|
|
rs768731417 CA311079190 |
234 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199564750 CA408126116 |
235 | P>L | No |
ClinGen gnomAD |
|
|
CA9750195 rs774387091 |
236 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9750196 rs760873173 |
236 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs766606967 CA9750197 |
237 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs144682531 CA9750199 |
239 | R>C | No |
ClinGen ESP ExAC TOPMed |
|
|
rs143249441 CA9750200 |
239 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1201440001 CA408126202 |
240 | L>F | No |
ClinGen gnomAD |
|
|
CA408126211 rs1477560959 |
241 | P>L | No |
ClinGen gnomAD |
|
|
rs1477560959 CA408126210 |
241 | P>R | No |
ClinGen gnomAD |
|
|
CA9750202 rs753006732 |
241 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408126212 rs1172271812 |
242 | G>R | No |
ClinGen gnomAD |
|
|
CA408126248 rs1402596581 |
244 | T>P | No |
ClinGen gnomAD |
|
|
COSM3841000 CA9750204 rs560699553 |
247 | V>F | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA408126288 rs560699553 |
247 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750206 rs757725370 |
250 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA408126348 rs1216507748 |
251 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA408126343 rs1305461092 |
251 | G>S | No |
ClinGen gnomAD |
|
|
CA9750208 rs745366327 |
252 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs755729188 CA9750210 |
255 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284716000 CA408126405 |
256 | S>A | No |
ClinGen gnomAD |
|
|
rs749064057 CA9750212 |
258 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774258349 CA9750214 |
263 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs748145107 CA9750215 |
265 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9750217 rs776642993 |
266 | A>P | No |
ClinGen ExAC |
|
|
CA408126509 rs776642993 |
266 | A>T | No |
ClinGen ExAC |
|
|
CA9750218 rs759592006 |
266 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750219 rs765389618 |
267 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9750220 rs775731890 |
268 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs962153324 CA311079361 |
270 | K>Q | No |
ClinGen TOPMed |
|
|
rs1204235433 CA408126570 |
271 | Q>E | No |
ClinGen TOPMed |
|
|
CA9750223 rs764478663 |
272 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763338451 CA9750222 |
272 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763338451 CA408126584 |
272 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750224 rs751895176 |
274 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1600454061 CA408126632 |
275 | S>R | No |
ClinGen Ensembl |
|
|
rs371612552 CA9750226 |
276 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA311079401 rs371612552 |
276 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA311079407 rs140277321 |
277 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1247525351 CA408126664 |
278 | A>T | No |
ClinGen gnomAD |
|
|
CA311079431 rs980887404 |
279 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs980887404 CA408126676 |
279 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA408126692 rs1196252815 |
280 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs925429866 CA311079432 |
281 | I>V | No |
ClinGen gnomAD |
|
|
CA408126718 rs1252440693 |
282 | I>F | No |
ClinGen gnomAD |
|
|
CA9750230 rs779608497 |
283 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753589901 CA9750231 |
285 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA9750232 rs754655513 |
285 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1165558604 CA408126805 |
289 | A>T | No |
ClinGen gnomAD |
|
|
CA311079446 rs550811962 |
291 | A>G | No |
ClinGen 1000Genomes |
|
|
CA9750234 rs747953031 |
292 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1399133857 CA408126885 |
296 | S>Y | No |
ClinGen gnomAD |
|
|
CA9750237 rs777706198 |
297 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA9750236 rs777706198 |
297 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9750238 rs769876421 |
297 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408126903 rs1159960014 |
298 | V>M | No |
ClinGen TOPMed |
|
|
CA9750240 rs138598490 |
301 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9750241 rs201030078 |
303 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183738853 CA408126992 |
304 | P>L | No |
ClinGen TOPMed |
|
|
rs1051933394 CA311079477 |
304 | P>T | No |
ClinGen Ensembl |
|
|
rs912867198 CA311079486 |
305 | V>L | No |
ClinGen TOPMed |
|
|
CA408127045 rs1241248311 |
309 | A>T | No |
ClinGen TOPMed |
|
|
rs375947622 CA9750242 |
309 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9750245 rs767935765 |
316 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1225701073 CA408127144 |
317 | A>P | No |
ClinGen TOPMed |
|
|
CA408127162 rs1308798518 |
318 | S>P | No |
ClinGen TOPMed |
|
|
CA408127222 rs1317763749 |
321 | T>A | No |
ClinGen gnomAD |
|
|
CA9750247 rs558231938 |
321 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1291116 rs1254207827 CA408127290 |
324 | S>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA311079512 rs993616460 |
325 | K>E | No |
ClinGen TOPMed |
|
|
rs753385897 CA9750249 |
327 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750250 rs370132622 |
328 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149455934 CA9750251 |
328 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408127370 rs149455934 |
328 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408127375 rs1170426564 |
329 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1293654594 CA408127431 |
331 | K>* | No |
ClinGen Ensembl |
|
|
CA9750253 rs758162094 |
331 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750252 rs752552262 |
331 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9750254 rs755551394 |
332 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382287339 CA408127476 |
333 | P>S | No |
ClinGen gnomAD |
|
|
rs770748295 CA9750256 |
334 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs372572360 CA9750257 |
335 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9750258 rs148089924 |
337 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408127563 rs1283711976 |
338 | S>C | No |
ClinGen gnomAD |
|
|
CA311079556 rs1022912735 |
340 | A>T | No |
ClinGen Ensembl |
|
|
rs768867216 CA9750259 |
340 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254463203 CA408127618 |
341 | L>P | No |
ClinGen gnomAD |
|
|
CA408127708 rs1254920434 |
345 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1205794486 CA408127739 |
346 | P>L | No |
ClinGen gnomAD |
|
|
CA408127817 rs1477140785 |
350 | P>L | No |
ClinGen gnomAD |
|
|
CA311079615 rs866177573 |
350 | P>S | No |
ClinGen Ensembl |
|
|
CA311079619 rs969959247 |
351 | I>V | No |
ClinGen Ensembl |
|
|
CA408127848 rs1568537801 |
352 | N>S | No |
ClinGen Ensembl |
|
|
rs772530788 CA9750262 |
353 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA9750263 rs773431150 |
355 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs143802036 CA9750264 |
355 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143802036 CA408127894 |
355 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408127895 rs1173587218 |
356 | A>T | No |
ClinGen gnomAD |
|
|
rs202136760 CA9750265 |
358 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1272417340 CA408127972 |
360 | P>A | No |
ClinGen TOPMed |
|
|
CA9750267 rs759060883 |
360 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9750269 rs752356121 |
365 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574565815 CA9750271 |
368 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574565815 CA9750272 |
368 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9750273 rs139168533 |
370 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9750274 rs143851853 |
372 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA311079695 rs954736716 |
373 | S>P | No |
ClinGen Ensembl |
|
|
CA9750275 rs749395267 |
374 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1487329143 CA408128202 |
374 | A>V | No |
ClinGen gnomAD |
|
|
CA408128271 rs1270212754 |
378 | P>L | No |
ClinGen gnomAD |
|
|
CA408128265 rs1270212754 |
378 | P>R | No |
ClinGen gnomAD |
|
|
CA408128332 rs1428594653 |
380 | D>G | No |
ClinGen TOPMed |
|
|
rs772062752 CA311079734 |
381 | G>E | No |
ClinGen Ensembl |
|
|
CA9750278 rs748455983 |
381 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477396988 CA408128410 |
383 | S>R | No |
ClinGen TOPMed |
|
|
CA9750279 rs772171141 |
384 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311079740 rs772171141 |
384 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750280 rs777901764 |
385 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747295018 CA311079753 |
386 | E>* | No |
ClinGen gnomAD |
|
|
rs747271653 CA9750281 |
386 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs747295018 CA311079749 |
386 | E>K | No |
ClinGen gnomAD |
|
|
CA408128662 rs763818201 |
387 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750305 rs763818201 |
387 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750306 rs773837942 |
388 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1457056593 CA408128687 |
388 | T>P | No |
ClinGen gnomAD |
|
|
rs1457056593 CA408128691 |
388 | T>S | No |
ClinGen gnomAD |
|
|
CA408128709 rs1198157242 |
389 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs761498453 CA9750307 |
390 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408128764 rs1568538152 |
393 | T>R | No |
ClinGen Ensembl |
|
|
CA408128755 rs1471510810 |
393 | T>S | No |
ClinGen gnomAD |
|
|
rs1181267192 CA408128775 |
394 | P>H | No |
ClinGen gnomAD |
|
|
rs1181267192 CA408128783 |
394 | P>L | No |
ClinGen gnomAD |
|
|
rs143089997 CA9750309 |
395 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9750310 rs760672209 |
395 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs45529136 CA311080374 |
396 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9750312 rs45529136 |
396 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000709788 CA9750314 rs778085486 |
397 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1222481631 CA408128851 |
398 | T>I | No |
ClinGen TOPMed |
|
|
rs149958089 CA9750315 |
399 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408128865 rs1341688021 |
400 | G>R | No |
ClinGen gnomAD |
|
|
CA9750317 rs781728177 |
401 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs770426322 CA9750319 |
402 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1228200435 CA408128913 |
403 | A>P | No |
ClinGen TOPMed |
|
|
CA408128926 rs1341531118 |
404 | W>R | No |
ClinGen TOPMed |
|
|
rs768093361 CA9750323 |
408 | S>N | No |
ClinGen ExAC |
|
|
rs7269320 CA9750324 |
409 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1386562270 CA408129073 |
411 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1242133829 CA408129109 |
413 | G>D | No |
ClinGen gnomAD |
|
|
RCV000948029 rs62640879 CA9750325 |
413 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA408129143 rs1191367501 |
415 | G>E | No |
ClinGen gnomAD |
|
|
rs773000355 CA9750328 |
416 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773000355 CA9750327 |
416 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753680631 CA9750330 |
417 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333615886 CA408129252 |
420 | K>N | No |
ClinGen gnomAD |
|
|
rs1007671658 CA311080425 |
421 | P>S | No |
ClinGen TOPMed |
|
|
CA9750333 rs527691809 |
423 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408129332 rs1489517592 |
426 | S>T | No |
ClinGen TOPMed |
|
|
CA9750334 rs757615367 |
428 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1234414021 CA408129362 |
428 | V>I | No |
ClinGen gnomAD |
|
|
CA9750336 rs750830591 |
429 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9750335 rs146661396 |
429 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756495843 CA9750337 |
431 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750339 rs749809468 |
432 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1641342 rs769194409 CA9750340 |
433 | S>L | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1200742851 CA408129444 |
434 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1200742851 CA408129446 |
434 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9750342 rs747595870 |
435 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA408129479 rs1293485192 |
436 | F>C | No |
ClinGen gnomAD |
|
|
rs200985651 CA9750344 |
436 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9750345 rs760496524 |
437 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs760496524 CA311080508 |
437 | E>Q | No |
ClinGen ExAC TOPMed |
|
|
rs770668992 CA9750346 |
439 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA311080514 rs773570249 |
440 | A>G | No |
ClinGen Ensembl |
|
|
CA408129565 rs1421573192 |
441 | I>F | No |
ClinGen gnomAD |
|
|
CA408129562 rs1421573192 |
441 | I>V | No |
ClinGen gnomAD |
|
|
rs776462403 CA9750347 |
444 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs765212362 COSM4134536 CA9750349 |
446 | S>F | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA408129678 rs1402451241 |
447 | L>F | No |
ClinGen TOPMed |
|
|
CA9750350 rs774577380 |
448 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9750351 rs761926389 |
448 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1237325334 CA408129720 |
449 | M>I | No |
ClinGen gnomAD |
|
|
rs1420839816 CA408129704 |
449 | M>T | No |
ClinGen gnomAD |
|
|
rs1284605956 CA408129729 |
450 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs767873572 CA9750353 |
452 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408129769 rs1287513905 |
453 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA408129771 rs1287513905 |
453 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408129856 rs1568538372 |
458 | N>D | No |
ClinGen Ensembl |
|
|
CA408129914 rs1435055183 |
460 | Y>F | No |
ClinGen TOPMed |
|
|
CA9750356 rs756385104 |
463 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193151335 CA408129974 |
464 | G>D | No |
ClinGen TOPMed |
|
|
CA311080567 rs568678621 |
466 | F>L | No |
ClinGen gnomAD |
|
|
CA311080566 rs994891059 |
466 | F>S | No |
ClinGen Ensembl |
|
|
rs1458895218 CA408130006 |
467 | G>E | No |
ClinGen gnomAD |
|
|
CA408130035 rs140310972 |
469 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140310972 CA311080568 |
469 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458251587 CA408130026 |
469 | H>Y | No |
ClinGen TOPMed |
|
|
CA9750359 rs369526385 |
470 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1049547523 CA311080573 |
470 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs144040750 CA9750360 |
472 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408130067 rs1310143439 |
473 | N>S | No |
ClinGen TOPMed |
|
|
rs757866394 CA9750362 |
474 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs535399230 CA311080587 |
474 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA311080599 rs945463854 |
476 | I>F | No |
ClinGen TOPMed |
|
|
CA9750364 rs199999120 |
476 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408130117 rs1240307495 |
477 | Q>L | No |
ClinGen TOPMed |
|
|
rs770601690 CA9750365 |
479 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs151301893 CA311080611 |
483 | P>L | No |
ClinGen ESP |
|
|
rs775518309 CA9750369 |
485 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs769632733 CA9750368 |
485 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408130220 rs762014329 |
487 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750370 rs762014329 |
487 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750372 rs773414275 |
489 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773414275 CA408130243 |
489 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750374 rs766557095 |
491 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs755323700 CA9750376 |
492 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765767727 CA9750377 |
494 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA311080686 rs1001735284 |
495 | P>Q | No |
ClinGen Ensembl |
|
|
CA9750378 rs753244906 |
495 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758877605 CA9750379 |
496 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201947681 CA9750382 |
498 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745671644 CA408130354 |
499 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9750384 rs745671644 |
499 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199788290 CA9750383 |
499 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1251715582 CA408130367 |
500 | K>N | No |
ClinGen gnomAD |
|
|
rs1600455488 CA408130435 |
506 | V>G | No |
ClinGen Ensembl |
|
|
rs779961828 CA9750386 |
508 | C>S | No |
ClinGen ExAC |
|
|
CA9750389 rs142615910 |
511 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408130494 rs1568538516 |
513 | P>S | No |
ClinGen Ensembl |
|
|
CA311080742 rs553345795 |
514 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA408130510 rs1355241466 |
514 | G>W | No |
ClinGen TOPMed |
|
|
CA311080743 rs1026061871 |
516 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9750390 rs773430855 |
518 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1600455528 CA408130677 |
520 | V>G | No |
ClinGen Ensembl |
|
|
rs912514007 CA311080762 |
523 | T>I | No |
ClinGen gnomAD |
|
|
CA408130745 rs1600455537 |
523 | T>P | No |
ClinGen Ensembl |
|
|
CA408130759 rs1467209218 |
524 | G>R | No |
ClinGen gnomAD |
|
|
rs1600455564 CA408130847 |
525 | V>G | No |
ClinGen Ensembl |
|
|
rs776877227 CA9750394 |
525 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1600455569 CA408130862 |
526 | L>P | No |
ClinGen Ensembl |
|
|
CA408130877 rs1600455580 |
527 | V>G | No |
ClinGen Ensembl |
|
|
rs759649514 CA9750395 |
527 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs201222623 CA408130884 |
528 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201222623 CA9750396 |
528 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408130980 rs763515809 |
533 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750398 rs763515809 |
533 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408131000 rs1254372226 |
534 | L>P | No |
ClinGen gnomAD |
|
|
rs751041178 CA9750400 |
535 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9750402 rs780739320 |
536 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs780739320 CA311080804 |
536 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs555385198 CA9750401 |
536 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408131058 rs1422471822 |
537 | R>Q | No |
ClinGen TOPMed |
|
|
rs143155710 CA9750404 |
537 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9750405 rs780062135 |
538 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1307385 CA9750406 rs761713524 |
538 | R>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA408131078 rs761713524 |
538 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761713524 CA408131076 |
538 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9750407 rs768727689 |
540 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1394006095 CA408131889 |
541 | H>E | No |
ClinGen gnomAD |
|
|
rs778950321 CA9750408 |
541 | H>W | No |
ClinGen ExAC gnomAD |
No associated diseases with Q7Z434
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR21446 | DUF3504 DOMAIN-CONTAINING PROTEIN |
| PANTHER Subfamily | PTHR21446:SF6 | MITOCHONDRIAL ANTIVIRAL-SIGNALING PROTEIN |
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| mitochondrial membrane | Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| 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. |
| peroxisomal membrane | The lipid bilayer surrounding a peroxisome. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| CARD domain binding | Binding to a CARD (N-terminal caspase recruitment) domain, a protein-protein interaction domain that belongs to the death domain-fold superfamily. These protein molecule families are similar in structure with each consisting of six or seven anti-parallel alpha-helices that form highly specific homophilic interactions between signaling partners. CARD exists in the N-terminal prodomains of several caspases and in apoptosis-regulatory proteins and mediates the assembly of CARD-containing proteins that participate in activation or suppression of CARD carrying members of the caspase family. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| signaling adaptor activity | The binding activity of a molecule that brings together two or more molecules in a signaling pathway, permitting those molecules to function in a coordinated way. Adaptor molecules themselves do not have catalytic activity. |
24 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of innate immune response | Any process that initiates an innate immune response. Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. Examples of this process include activation of the hypersensitive response of Arabidopsis thaliana and activation of any NOD or TLR signaling pathway in vertebrate species. |
| cellular response to exogenous dsRNA | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an exogenous double-stranded RNA stimulus. |
| defense response to bacterium | Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| negative regulation of viral genome replication | Any process that stops, prevents, or reduces the frequency, rate or extent of viral genome replication. |
| positive regulation of chemokine (C-C motif) ligand 5 production | Any process that activates or increases the frequency, rate, or extent of production of chemokine (C-C motif) ligand 5. |
| positive regulation of defense response to virus by host | Any host process that results in the promotion of antiviral immune response mechanisms, thereby limiting viral replication. |
| positive regulation of DNA-binding transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| positive regulation of interferon-alpha production | Any process that activates or increases the frequency, rate, or extent of interferon-alpha production. |
| positive regulation of interferon-beta production | Any process that activates or increases the frequency, rate, or extent of interferon-beta production. |
| positive regulation of interleukin-6 production | Any process that activates or increases the frequency, rate, or extent of interleukin-6 production. |
| positive regulation of interleukin-8 production | Any process that activates or increases the frequency, rate, or extent of interleukin-8 production. |
| positive regulation of IP-10 production | Any process that activates or increases the frequency, rate, or extent of production of IP-10. |
| positive regulation of myeloid dendritic cell cytokine production | Any process that activates or increases the frequency, rate, or extent of myeloid dendritic cell cytokine production. |
| positive regulation of protein import into nucleus | Any process that activates or increases the frequency, rate or extent of movement of proteins from the cytoplasm into the nucleus. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| positive regulation of response to cytokine stimulus | Any process that increases the rate, frequency, or extent of a response to cytokine stimulus. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of tumor necrosis factor production | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production. |
| positive regulation of type I interferon-mediated signaling pathway | Any process that increases the rate, frequency or extent of a type I interferon-mediated signaling pathway. |
| regulation of peroxisome organization | Any process that modulates the frequency, rate or extent of peroxisome organization. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q66HG9 | Mavs | Mitochondrial antiviral-signaling protein | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPFAEDKTYK | YICRNFSNFC | NVDVVEILPY | LPCLTARDQD | RLRATCTLSG | NRDTLWHLFN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TLQRRPGWVE | YFIAALRGCE | LVDLADEVAS | VYQSYQPRTS | DRPPDPLEPP | SLPAERPGPP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TPAAAHSIPY | NSCREKEPSY | PMPVQETQAP | ESPGENSEQA | LQTLSPRAIP | RNPDGGPLES |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SSDLAALSPL | TSSGHQEQDT | ELGSTHTAGA | TSSLTPSRGP | VSPSVSFQPL | ARSTPRASRL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PGPTGSVVST | GTSFSSSSPG | LASAGAAEGK | QGAESDQAEP | IICSSGAEAP | ANSLPSKVPT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TLMPVNTVAL | KVPANPASVS | TVPSKLPTSS | KPPGAVPSNA | LTNPAPSKLP | INSTRAGMVP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SKVPTSMVLT | KVSASTVPTD | GSSRNEETPA | APTPAGATGG | SSAWLDSSSE | NRGLGSELSK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PGVLASQVDS | PFSGCFEDLA | ISASTSLGMG | PCHGPEENEY | KSEGTFGIHV | AENPSIQLLE |
| 490 | 500 | 510 | 520 | 530 | |
| GNPGPPADPD | GGPRPQADRK | FQEREVPCHR | PSPGALWLQV | AVTGVLVVTL | LVVLYRRRLH |