P49590
PR
Gene name |
HARS2 (HARSL, HARSR, HO3) |
Protein name |
Histidine--tRNA ligase, mitochondrial |
Names |
Histidine--tRNA ligase-like, Histidyl-tRNA synthetase, HisRS |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23438 |
EC number |
6.1.1.21: Ligases forming aminoacyl-tRNA and related compounds |
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 P49590
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P49590-F1 | Predicted | AlphaFoldDB |
424 variants for P49590
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000853541 CA361192305 rs1581536078 |
24 | C>* | Sensorineural hearing loss disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000782170 CA361193586 VAR_083046 rs1562047621 |
46 | L>Q | Perrault syndrome 2 PRLTS2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs140083454 CA320905 RCV002286714 RCV002517223 |
51 | E>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA321856 rs201392711 VAR_083047 RCV000197397 RCV000782168 |
58 | K>E | Perrault syndrome 2 PRLTS2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD UniProt |
|
rs754069818 RCV000782172 CA3444350 |
87 | R>C | Perrault syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_083048 | 87 | R>K | PRLTS2; unknown pathological significance [UniProt] | Yes | UniProt |
|
COSM1209306 CA361197036 rs1432653451 RCV000853540 |
138 | R>H | large_intestine Sensorineural hearing loss disorder Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000223531 rs140540222 CA323817 COSM1061758 VAR_083049 RCV000199285 RCV000782169 |
150 | R>C | Perrault syndrome 2 Variant assessed as Somatic; 0.0 impact. endometrium PRLTS2; unknown pathological significance [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD UniProt |
|
RCV000490419 RCV002515596 rs781549967 |
164 | I>missing | Perrault syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002468984 VAR_069532 RCV000032820 RCV002513308 CA343806 rs397515410 |
200 | L>V | Perrault syndrome 2 Perrault syndrome PRLTS2; the mutant protein is expressed, can dimerize and localizes to the mitochondria; has significantly decreased enzymatic activity compared to wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs1229581230 RCV001261943 CA361198515 COSM1619579 |
216 | R>Q | Perrault syndrome 2 Variant assessed as Somatic; 0.0 impact. liver [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA324032 RCV000199488 RCV000767024 RCV001261944 rs749799529 |
233 | R>C | Perrault syndrome 2 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1581550832 CA915942653 RCV000853539 |
277 | G>Y | Sensorineural hearing loss disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000725134 CA321328 RCV002517224 rs74755920 |
319 | I>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA128343847 rs778499309 RCV000782171 VAR_083050 |
327 | R>Q | Perrault syndrome 2 PRLTS2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD UniProt |
|
rs376177973 RCV000206915 CA350908 RCV002517027 VAR_069533 |
368 | V>L | Perrault syndrome 2 Perrault syndrome PRLTS2; the mutant protein is expressed, can dimerize and localizes to the mitochondria; has significantly decreased enzymatic activity compared to wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002500613 rs61736946 CA320300 RCV000195916 RCV000767025 |
369 | G>R | Perrault syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000853538 rs200089613 CA3444706 COSM1061762 RCV001869179 |
480 | R>H | Sensorineural hearing loss disorder endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001786406 RCV002528790 RCV000605397 CA3444742 rs370053420 |
505 | E>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1337749498 CA361191982 |
2 | P>L | No |
ClinGen gnomAD |
|
|
CA361191976 rs1321732825 |
2 | P>S | No |
ClinGen gnomAD |
|
|
CA361191975 rs1321732825 |
2 | P>T | No |
ClinGen gnomAD |
|
|
RCV000726109 rs186043734 CA291164 RCV000125346 |
3 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA361192001 rs1351167956 |
5 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA361192011 rs1247935137 |
6 | L>V | No |
ClinGen gnomAD |
|
|
CA128340206 rs557297080 |
7 | L>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA361192037 rs1355610087 |
8 | P>L | No |
ClinGen gnomAD |
|
|
rs1207539784 CA361192039 |
9 | R>G | No |
ClinGen gnomAD |
|
|
rs1207539784 CA361192040 |
9 | R>W | No |
ClinGen gnomAD |
|
|
rs1252137750 CA361192056 |
10 | R>G | No |
ClinGen gnomAD |
|
|
rs760793114 CA3444268 |
10 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA361192076 rs1177561758 |
10 | R>S | No |
ClinGen gnomAD |
|
|
rs1236006831 CA361192086 |
11 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1185853651 CA361192113 |
12 | W>C | No |
ClinGen gnomAD |
|
|
rs575626648 CA3444269 |
12 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1428920258 CA361192096 |
12 | W>S | No |
ClinGen TOPMed |
|
|
rs899565428 CA128340240 |
13 | A>V | No |
ClinGen TOPMed |
|
|
rs1386383653 CA361192143 |
14 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1161981878 CA361192197 |
17 | S>R | No |
ClinGen gnomAD |
|
|
rs1398654169 CA361192227 |
19 | L>P | No |
ClinGen gnomAD |
|
|
rs1410624157 CA361192233 |
20 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA361192240 rs1330881651 |
20 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762107548 CA3444271 |
21 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361192268 rs1315545521 |
22 | P>Q | No |
ClinGen gnomAD |
|
|
rs1297507430 CA361192296 |
23 | P>L | No |
ClinGen TOPMed |
|
|
CA361192285 rs1242438690 |
23 | P>S | No |
ClinGen gnomAD |
|
|
rs1581536078 CA361192306 |
24 | C>W | No |
ClinGen Ensembl |
|
|
rs1384337102 CA361192320 |
25 | A>V | No |
ClinGen TOPMed |
|
|
rs765604214 CA3444273 |
26 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444274 rs750886389 |
26 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA361192358 rs1197495466 |
27 | C>Y | No |
ClinGen gnomAD |
|
|
CA361192383 rs1462415983 |
28 | T>I | No |
ClinGen gnomAD |
|
|
CA361192372 rs1255726749 |
28 | T>P | No |
ClinGen gnomAD |
|
|
CA3444275 rs763487395 CA3444276 |
29 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462242729 CA361192442 |
32 | R>G | No |
ClinGen TOPMed |
|
|
CA361192448 rs1185984932 |
32 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA361192456 rs1185984932 |
32 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1462242729 CA361192439 |
32 | R>S | No |
ClinGen TOPMed |
|
|
CA361192483 rs1478169956 |
34 | Q>* | No |
ClinGen gnomAD |
|
|
CA128340283 rs1021454334 |
34 | Q>R | No |
ClinGen TOPMed |
|
|
CA361192513 rs1230696722 |
35 | S>N | No |
ClinGen gnomAD |
|
|
rs1170118774 CA361192535 |
36 | Q>R | No |
ClinGen gnomAD |
|
|
rs1323260877 CA361193462 |
37 | V>A | No |
ClinGen TOPMed |
|
|
rs1354809959 CA361193498 |
39 | E>D | No |
ClinGen gnomAD |
|
|
CA361193519 rs944737609 |
41 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs944737609 CA128341024 |
41 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs146046742 CA3444308 |
42 | L>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 47 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3444309 rs755041374 |
47 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs781286730 CA3444310 |
48 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370203603 CA10576650 RCV000214981 |
49 | H>Y | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
rs770057173 CA3444312 |
50 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1061756 rs199927856 CA3444313 |
51 | E>D | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed |
|
rs773430229 RCV000200260 CA324816 |
51 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1176591880 CA361193666 |
52 | K>T | No |
ClinGen gnomAD |
|
|
CA361193737 rs1272325032 |
56 | I>F | No |
ClinGen gnomAD |
|
|
rs876657829 RCV001847945 RCV000218621 |
57 | I>missing | No |
ClinVar dbSNP |
|
|
CA361193753 rs1405946877 |
57 | I>F | No |
ClinGen gnomAD |
|
|
rs1463092734 CA361193790 |
58 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs760001287 CA3444315 |
58 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1234454508 CA361193797 |
59 | T>S | No |
ClinGen TOPMed |
|
| rs765457460 | 60 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3444317 rs763677087 |
61 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA361193953 rs1178093992 |
62 | G>S | No |
ClinGen gnomAD |
|
|
CA361194010 rs766170917 CA3444341 |
64 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA361194017 rs1415381004 |
65 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA361194025 rs1333987960 |
65 | D>E | No |
ClinGen gnomAD |
|
|
rs1169999811 CA361194011 |
65 | D>N | No |
ClinGen gnomAD |
|
|
rs1165886819 CA361194116 |
69 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 69 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3444342 rs751366126 |
69 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA361194192 rs1415986168 |
70 | H>Q | No |
ClinGen TOPMed |
|
|
CA3444343 rs376863145 |
70 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128341219 rs1040409658 |
71 | M>I | No |
ClinGen TOPMed |
|
|
CA361194200 rs1299353819 |
71 | M>V | No |
ClinGen gnomAD |
|
|
rs1470721315 CA361194239 |
72 | V>I | No |
ClinGen TOPMed |
|
|
rs1232807756 CA361194299 |
74 | R>K | No |
ClinGen TOPMed |
|
|
CA3444345 rs752656214 |
75 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3444347 rs756149875 |
80 | L>V | No |
ClinGen ExAC |
|
|
CA361194448 rs1265472164 |
81 | V>F | No |
ClinGen Ensembl |
|
|
CA361194445 rs1265472164 |
81 | V>L | No |
ClinGen Ensembl |
|
|
rs777874953 CA3444349 |
82 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA3444352 rs369075888 |
87 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3444351 rs369075888 |
87 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1332150487 CA361194693 |
88 | H>P | No |
ClinGen TOPMed |
|
|
rs1262424022 CA361194743 |
90 | A>S | No |
ClinGen gnomAD |
|
|
CA361194769 rs1487003278 |
91 | K>R | No |
ClinGen gnomAD |
|
|
CA128341237 rs931978218 |
92 | G>E | No |
ClinGen TOPMed |
|
|
rs746154170 CA3444353 |
92 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3444355 rs780657375 |
93 | M>I | No |
ClinGen ExAC |
|
|
rs772577211 CA3444354 |
93 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA361194797 rs1334970113 |
93 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs200954229 CA361194841 |
94 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3444359 rs544665484 |
97 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772319900 CA128341258 |
97 | A>V | No |
ClinGen gnomAD |
|
|
rs1326603852 CA361194952 |
98 | F>S | No |
ClinGen TOPMed |
|
|
rs762652717 CA3444360 |
99 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762652717 CA361194967 |
99 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373905676 CA128341321 |
103 | T>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3444387 rs143687204 |
108 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1371647449 CA361195292 |
110 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3444388 rs750638675 |
111 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA128341331 rs759376945 |
112 | S>C | No |
ClinGen Ensembl |
|
|
CA3444390 rs758738918 |
113 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444389 rs758738918 |
113 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444393 rs781492646 |
115 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs755372694 CA3444392 |
115 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3444394 rs748722079 |
116 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444395 rs756692287 |
117 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs756692287 CA361195478 |
117 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778535058 CA3444396 |
119 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3444397 rs745511545 |
120 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1562050404 CA361195542 |
120 | D>N | No |
ClinGen Ensembl |
|
|
CA361195577 rs771782336 |
121 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3444398 rs771782336 |
121 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA361195580 rs1334701998 |
121 | Q>R | No |
ClinGen gnomAD |
|
|
rs775131788 CA3444399 |
124 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs746751794 CA3444400 |
126 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs768516014 CA3444401 |
127 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs369816856 CA128341361 |
128 | L>H | No |
ClinGen ESP TOPMed |
|
|
rs533472697 CA3444402 |
129 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs151312766 CA3444404 |
129 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs151312766 CA3444403 |
129 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128341369 rs763261995 |
130 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444405 rs773483704 |
130 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3444406 rs763261995 |
130 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361195825 rs1257463077 |
133 | T>I | No |
ClinGen gnomAD |
|
|
rs774685835 CA3444424 |
134 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs774685835 CA361196959 |
134 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1177067024 CA361197018 |
137 | A>V | No |
ClinGen gnomAD |
|
|
CA3444425 rs760431653 |
138 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1312606802 CA361197091 |
141 | A>T | No |
ClinGen TOPMed |
|
|
CA3444427 rs753176714 |
142 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128341827 rs922963355 |
142 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 144 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760954847 CA3444428 |
148 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3444429 rs754367751 |
150 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 154 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3444433 rs754713376 |
154 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs569706792 CA3444435 |
155 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3444437 rs769722665 |
157 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444436 rs769722665 |
157 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537026486 CA3444439 |
158 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3444440 rs537026486 |
158 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3444438 rs749279953 |
158 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376181876 CA3444441 |
159 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361197483 rs1455541795 |
159 | R>Q | No |
ClinGen gnomAD |
|
|
rs772274048 CA3444442 |
160 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3444444 rs775593071 |
164 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361197633 rs1457994190 |
166 | Q>E | No |
ClinGen gnomAD |
|
|
rs1292547992 CA361197654 |
167 | G>C | No |
ClinGen gnomAD |
|
|
rs761054820 CA3444445 RCV000222645 |
168 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA3444446 RCV000604886 COSM167804 rs764476456 |
168 | R>H | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP |
|
CA3444447 rs754308731 |
169 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3444449 rs765857697 |
170 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs906553273 CA128341872 |
170 | R>W | No |
ClinGen TOPMed |
|
|
CA361197725 rs1239986338 |
171 | E>D | No |
ClinGen gnomAD |
|
|
CA3444450 rs751144762 |
172 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs552030371 CA3444451 |
175 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1319182842 CA361197805 |
175 | C>R | No |
ClinGen TOPMed |
|
|
CA361197908 rs1433927268 |
176 | D>E | No |
ClinGen TOPMed |
|
|
CA3444466 rs747268756 |
176 | D>H | No |
ClinGen ExAC |
|
|
rs776244877 CA3444467 |
182 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128341926 rs538928793 |
184 | D>E | No |
ClinGen 1000Genomes |
|
|
CA128341923 rs777100956 |
184 | D>Y | No |
ClinGen Ensembl |
|
|
rs1202241907 CA361198082 |
186 | M>V | No |
ClinGen gnomAD |
|
|
CA128341930 rs1044622594 |
189 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 190 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 190 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762299771 CA3444469 |
191 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA361198168 rs1181214459 |
192 | C>W | No |
ClinGen gnomAD |
|
|
CA3444472 rs759035525 CA361198226 |
196 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765665476 CA3444470 |
196 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA3444471 rs773605161 |
196 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA128341939 rs777322912 |
199 | I>M | No |
ClinGen Ensembl |
|
|
CA128341946 rs572550821 |
201 | S>C | No |
ClinGen 1000Genomes |
|
|
rs761342761 CA3444475 |
207 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1362458462 CA361198361 |
207 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 207 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361198385 rs1401967821 |
209 | L>F | No |
ClinGen gnomAD |
|
|
CA361198390 rs1279051567 |
209 | L>P | No |
ClinGen gnomAD |
|
|
CA3444476 rs763978025 |
211 | K>* | No |
ClinGen ExAC |
|
|
rs973137103 CA128342035 RCV000493401 |
214 | D>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA3444500 COSM1209307 rs780173856 |
215 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3444499 rs758323052 RCV000604840 |
215 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1046078498 CA128342040 |
216 | R>W | No |
ClinGen Ensembl |
|
|
CA361198595 rs1441304446 |
222 | F>S | No |
ClinGen TOPMed |
|
|
rs751568696 CA3444501 |
223 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA128342050 rs938905809 |
224 | V>L | No |
ClinGen Ensembl |
|
|
CA128342053 rs373594946 |
225 | C>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA128342055 rs961535011 |
226 | G>R | No |
ClinGen TOPMed |
|
|
rs770162488 CA3444505 |
227 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3444506 rs778058403 |
228 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 230 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461059894 CA361198720 |
232 | F>L | No |
ClinGen gnomAD |
|
|
CA321811 RCV001722094 rs771275914 |
233 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA3444507 rs775012745 |
234 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs775012745 CA361198731 |
234 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1275449413 CA361198753 |
235 | I>M | No |
ClinGen gnomAD |
|
|
rs1293795529 CA361198756 |
236 | C>R | No |
ClinGen TOPMed |
|
|
rs768317230 CA3444509 |
238 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1246347546 CA361198792 |
239 | I>V | No |
ClinGen gnomAD |
|
|
CA3444512 rs776394563 |
242 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3444513 rs761425145 |
243 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320413412 CA361198863 |
244 | K>Q | No |
ClinGen gnomAD |
|
|
CA361198947 rs1429271920 |
245 | M>I | No |
ClinGen gnomAD |
|
|
rs1192760530 CA361198959 |
246 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3444529 rs771350011 |
248 | K>E | No |
ClinGen ExAC TOPMed |
|
|
CA361198986 rs1436177798 |
248 | K>I | No |
ClinGen TOPMed |
|
|
CA361199011 rs1371077972 |
250 | V>G | No |
ClinGen gnomAD |
|
|
rs1320722741 CA361199081 |
254 | M>I | No |
ClinGen TOPMed |
|
|
CA361199111 rs1401087200 |
256 | V>G | No |
ClinGen TOPMed |
|
|
CA128342178 rs1030236876 |
257 | K>Q | No |
ClinGen TOPMed |
|
|
CA128342181 rs867439406 |
257 | K>R | No |
ClinGen gnomAD |
|
|
rs201350285 CA361199198 |
259 | G>R | No |
ClinGen 1000Genomes |
|
|
CA128342182 rs201350285 |
259 | G>S | No |
ClinGen 1000Genomes |
|
|
rs779525996 CA3444530 |
259 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361199245 rs1299575031 |
261 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA361199247 rs1299575031 |
261 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3444532 rs145104612 |
262 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361199266 rs1474798409 |
263 | E>* | No |
ClinGen gnomAD |
|
|
CA361199300 rs1562057208 |
264 | V>A | No |
ClinGen Ensembl |
|
|
CA3444533 rs776336180 |
264 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3444534 rs761520638 |
265 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761520638 CA3444535 |
265 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128342202 rs1033239171 |
267 | R>* | No |
ClinGen TOPMed |
|
|
rs1235948749 CA361199375 |
267 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361199369 rs1235948749 |
267 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs554161150 CA3444536 |
268 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3444537 rs372235311 |
270 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3444538 rs766192073 |
271 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA128342211 rs111941745 |
273 | Q>* | No |
ClinGen Ensembl |
|
|
CA361199492 rs1562057428 |
273 | Q>R | No |
ClinGen Ensembl |
|
|
rs774239087 CA3444539 |
275 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3444540 rs759517310 |
276 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3444557 rs774188251 |
277 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA361199693 rs1324827592 |
278 | V>A | No |
ClinGen gnomAD |
|
|
CA361199679 rs1461585171 |
278 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 280 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000757353 rs1439213535 RCV000608137 CA361199707 |
280 | L>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA361199727 rs1361109693 |
282 | E>G | No |
ClinGen TOPMed |
|
|
rs775521369 CA3444560 |
282 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444562 rs146931647 |
283 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3444563 rs753988132 |
284 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3444565 rs529926280 |
286 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1562058683 CA361199793 |
287 | D>V | No |
ClinGen Ensembl |
|
|
rs750746837 CA3444566 |
288 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1233378083 CA361199841 |
291 | S>C | No |
ClinGen gnomAD |
|
|
rs909843636 CA128342381 |
292 | Q>E | No |
ClinGen TOPMed |
|
|
rs142106571 CA3444568 |
292 | Q>H | No |
ClinGen ESP ExAC TOPMed |
|
|
CA361199848 rs1178551402 |
292 | Q>P | No |
ClinGen TOPMed |
|
|
rs1424836591 CA361199886 |
295 | Q>* | No |
ClinGen TOPMed |
|
|
rs1424836591 CA361199883 |
295 | Q>K | No |
ClinGen TOPMed |
|
|
CA128342390 rs922092385 |
296 | A>T | No |
ClinGen gnomAD |
|
|
CA361199903 rs1257597240 |
296 | A>V | No |
ClinGen gnomAD |
|
|
COSM589762 rs563438102 CA3444569 |
301 | G>E | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA361200490 rs1489518800 |
301 | G>R | No |
ClinGen TOPMed |
|
|
rs1163720808 CA361200515 |
302 | D>E | No |
ClinGen gnomAD |
|
|
rs530630887 CA3444571 |
303 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199578887 CA128343759 |
310 | L>V | No |
ClinGen 1000Genomes |
|
|
rs145866248 CA361200633 |
311 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145866248 CA324838 RCV000925350 |
311 | T>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1004945960 CA128343762 |
312 | L>F | No |
ClinGen Ensembl |
|
|
CA128343763 rs1036757779 |
315 | I>F | No |
ClinGen Ensembl |
|
|
CA3444573 rs778550521 |
315 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415523734 CA361200716 |
317 | D>G | No |
ClinGen gnomAD |
|
|
CA3444574 rs745615940 |
318 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA3444587 rs75387627 |
323 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA361200909 rs1488999338 |
327 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs778499309 CA3444590 |
327 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361200911 rs1488999338 |
327 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs370182078 CA3444593 |
328 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3444592 rs201992704 |
328 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3444595 rs746920176 |
331 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA128343876 rs987919461 |
336 | I>F | No |
ClinGen TOPMed |
|
|
rs1393301786 CA361201065 |
336 | I>M | No |
ClinGen gnomAD |
|
|
CA3444596 rs537198287 |
337 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA128343884 rs537198287 |
337 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA128343885 rs967780188 |
338 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3444598 rs761932799 |
341 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1371480183 CA361201176 |
342 | L>P | No |
ClinGen gnomAD |
|
|
CA361201207 rs1401433076 |
343 | Q>H | No |
ClinGen TOPMed |
|
|
CA128343895 rs979385946 |
345 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs979385946 CA361201222 |
345 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1352177896 CA361201254 |
346 | T>I | No |
ClinGen gnomAD |
|
|
CA3444600 rs372191938 |
347 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3444601 rs763313518 |
347 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs766638694 CA3444602 |
348 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs759831668 CA3444604 |
349 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361201315 rs759831668 |
349 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201084498 CA3444605 |
352 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361201477 rs1471192409 |
355 | V>M | No |
ClinGen gnomAD |
|
|
CA3444607 rs369536729 |
356 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361201545 rs1562060357 |
357 | S>N | No |
ClinGen Ensembl |
|
|
CA3444608 rs778446302 |
358 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs767742173 CA128343935 |
360 | A>V | No |
ClinGen Ensembl |
|
|
rs1051862023 CA128343942 COSM1061760 |
363 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs758141368 CA3444610 |
363 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs746757469 CA3444612 |
364 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 364 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3444614 rs376177973 |
368 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs990650064 CA128343956 |
370 | M>I | No |
ClinGen TOPMed |
|
|
rs373145883 CA3444616 |
370 | M>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3444617 rs771116996 |
372 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA361201897 rs774459564 |
373 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1313047437 CA361201900 |
373 | P>L | No |
ClinGen TOPMed |
|
|
CA3444618 rs774459564 |
373 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759905986 CA3444619 |
374 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 374 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265878825 CA361201932 |
375 | G>D | No |
ClinGen gnomAD |
|
|
CA361201951 rs1581552283 |
376 | H>R | No |
ClinGen Ensembl |
|
|
rs534686608 CA128343958 |
377 | K>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3444621 rs767814719 |
378 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs775956020 CA3444622 |
379 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3444624 rs764725302 |
382 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3444625 rs749873170 |
383 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1331020925 CA361202117 |
385 | I>V | No |
ClinGen TOPMed |
|
|
CA361202158 rs1328132542 |
387 | V>A | No |
ClinGen gnomAD |
|
|
rs1410411754 CA361202150 |
387 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA361202152 rs1410411754 |
387 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1562060965 CA361202188 |
389 | R>* | No |
ClinGen Ensembl |
|
|
rs1333442194 CA361202191 |
389 | R>Q | No |
ClinGen gnomAD |
|
|
rs1393504690 CA361202235 |
391 | F>S | No |
ClinGen TOPMed |
|
|
rs1440018031 CA361202248 |
392 | Y>H | No |
ClinGen Ensembl |
|
|
rs994854832 CA128343975 |
393 | I>T | No |
ClinGen Ensembl |
|
|
CA128343971 rs764727361 |
393 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748083432 CA3444632 |
396 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444633 rs371435048 |
397 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361202347 rs1278229014 |
398 | M>V | No |
ClinGen gnomAD |
|
|
rs1156486217 CA361202449 |
400 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 400 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340753644 CA361202460 |
401 | K>E | No |
ClinGen gnomAD |
|
|
CA361202468 rs1213654488 |
401 | K>R | No |
ClinGen gnomAD |
|
|
rs1484805419 CA361202546 |
405 | V>E | No |
ClinGen gnomAD |
|
|
rs752472621 RCV001824346 RCV000611903 CA3444650 |
406 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs767415065 CA3444649 |
406 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128344059 rs934014791 |
408 | T>A | No |
ClinGen TOPMed |
|
|
rs1034840778 CA361202613 |
409 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3444653 rs777813199 |
412 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361202667 rs1581553157 |
413 | F>L | No |
ClinGen Ensembl |
|
|
CA361202720 rs1393915629 |
417 | P>A | No |
ClinGen gnomAD |
|
|
rs138090816 CA3444656 |
418 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3444657 rs746101027 |
422 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3444658 rs772217829 |
423 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs747329757 CA361202842 |
425 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747329757 CA3444660 |
425 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444659 rs563477361 |
425 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361202880 rs762273590 |
428 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762273590 CA3444663 |
428 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347212266 CA361202895 |
429 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA361202909 rs1231230040 |
430 | A>G | No |
ClinGen gnomAD |
|
|
rs968085072 CA128344095 |
434 | D>V | No |
ClinGen Ensembl |
|
|
rs975119434 CA128344099 |
435 | S>T | No |
ClinGen Ensembl |
|
|
rs773799131 CA3444665 |
438 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361203038 rs1160767461 |
439 | A>G | No |
ClinGen gnomAD |
|
|
rs374204836 CA3444687 |
440 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763978357 CA3444688 |
446 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3444689 rs753513318 |
447 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361203133 rs753513318 |
447 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761684556 CA3444690 |
448 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 451 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361203185 rs1320282487 |
452 | Q>* | No |
ClinGen gnomAD |
|
|
rs1300384993 CA361203191 |
452 | Q>H | No |
ClinGen gnomAD |
|
|
CA3444691 rs765040030 |
454 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271579967 CA361203225 |
455 | Y>C | No |
ClinGen TOPMed |
|
|
CA3444692 rs750410176 |
455 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA361203279 rs1229517662 |
458 | S>N | No |
ClinGen TOPMed |
|
|
rs758437147 CA3444694 |
460 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3444693 rs758437147 |
460 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1319673550 CA361203315 |
461 | I>V | No |
ClinGen gnomAD |
|
|
rs781479599 CA3444697 |
467 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444696 rs755258446 |
467 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748402163 CA3444698 |
468 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748402163 CA128344236 |
468 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 473 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs562743285 CA3444700 RCV001719033 |
474 | E>G | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs749859977 CA3444701 |
475 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA361203534 rs1186756544 |
475 | G>W | No |
ClinGen gnomAD |
|
|
CA361203542 rs1331782643 |
476 | V>I | No |
ClinGen TOPMed |
|
|
rs1224397141 CA361203568 |
477 | I>M | No |
ClinGen gnomAD |
|
|
CA3444703 rs775208983 |
477 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128344273 rs987642735 |
478 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs752981558 CA361203586 |
478 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs535080797 CA3444704 |
478 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1429188380 CA361203611 |
480 | R>C | No |
ClinGen gnomAD |
|
|
RCV000221606 RCV001853412 rs200089613 CA3444707 |
480 | R>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1163021772 CA361203643 |
482 | V>A | No |
ClinGen TOPMed |
|
|
CA361203648 rs1581554529 |
483 | A>T | No |
ClinGen Ensembl |
|
|
CA3444710 rs773108592 |
484 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766439446 CA3444712 |
485 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1581555500 CA361203843 |
489 | A>D | No |
ClinGen Ensembl |
|
|
CA3444732 rs767685397 |
490 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs752851001 CA3444733 |
492 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764417743 CA3444735 |
493 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs754195528 CA3444736 |
493 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3444737 rs757715558 |
495 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361203930 rs1160064838 |
495 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361204034 rs1291748105 |
501 | K>N | No |
ClinGen Ensembl |
|
|
CA3444738 rs142627341 |
502 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3444739 rs751003402 |
502 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA361204052 rs1581555632 |
504 | S>Y | No |
ClinGen Ensembl |
|
|
RCV000197631 rs863224041 |
505 | E>* | No |
ClinVar dbSNP |
|
|
rs1374843318 CA361204083 |
506 | S>F | No |
ClinGen gnomAD |
|
|
CA3444743 rs747755320 |
507 | S>R | No |
ClinGen ExAC gnomAD |
1 associated diseases with P49590
[MIM: 614926]: Perrault syndrome 2 (PRLTS2)
A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. {ECO:0000269|PubMed:21464306, ECO:0000269|PubMed:31449985}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. {ECO:0000269|PubMed:21464306, ECO:0000269|PubMed:31449985}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for P49590
Functions
| Description | ||
|---|---|---|
| EC Number | 6.1.1.21 | Ligases forming aminoacyl-tRNA and related compounds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| histidine-tRNA ligase activity | Catalysis of the reaction: ATP + L-histidine + tRNA(His) = AMP + diphosphate + L-histidyl-tRNA(His). |
| identical protein binding | Binding to an identical protein or proteins. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| histidyl-tRNA aminoacylation | The process of coupling histidine to histidyl-tRNA, catalyzed by histidyl-tRNA synthetase. The histidyl-tRNA synthetase is a class-II synthetase. The activated amino acid is transferred to the 3''-OH group of a histidine-accetping tRNA. |
| translation | The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. |
| tRNA aminoacylation for protein translation | The synthesis of aminoacyl tRNA by the formation of an ester bond between the 3'-hydroxyl group of the most 3' adenosine of the tRNA and the alpha carboxylic acid group of an amino acid, to be used in ribosome-mediated polypeptide synthesis. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2KI84 | HARS1 | Histidine--tRNA ligase, cytoplasmic | Bos taurus (Bovine) | PR |
| A5D7V9 | HARS2 | Histidine--tRNA ligase, mitochondrial | Bos taurus (Bovine) | PR |
| P12081 | HARS1 | Histidine--tRNA ligase, cytoplasmic | Homo sapiens (Human) | PR |
| Q61035 | Hars1 | Histidine--tRNA ligase, cytoplasmic | Mus musculus (Mouse) | PR |
| Q99KK9 | Hars2 | Histidine--tRNA ligase, mitochondrial | Mus musculus (Mouse) | PR |
| P93422 | Os09g0504400 | Histidine--tRNA ligase, cytoplasmic | Oryza sativa subsp japonica (Rice) | PR |
| P34183 | hars-1 | Histidine--tRNA ligase | Caenorhabditis elegans | PR |
| O82413 | At3g46100 | Histidine--tRNA ligase, chloroplastic/mitochondrial | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4IYF8 | At3g02760 | Histidine--tRNA ligase, cytoplasmic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPLLGLLPRR | AWASLLSQLL | RPPCASCTGA | VRCQSQVAEA | VLTSQLKAHQ | EKPNFIIKTP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KGTRDLSPQH | MVVREKILDL | VISCFKRHGA | KGMDTPAFEL | KETLTEKYGE | DSGLMYDLKD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QGGELLSLRY | DLTVPFARYL | AMNKVKKMKR | YHVGKVWRRE | SPTIVQGRYR | EFCQCDFDIA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GQFDPMIPDA | ECLKIMCEIL | SGLQLGDFLI | KVNDRRIVDG | MFAVCGVPES | KFRAICSSID |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KLDKMAWKDV | RHEMVVKKGL | APEVADRIGD | YVQCHGGVSL | VEQMFQDPRL | SQNKQALEGL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GDLKLLFEYL | TLFGIADKIS | FDLSLARGLD | YYTGVIYEAV | LLQTPTQAGE | EPLNVGSVAA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GGRYDGLVGM | FDPKGHKVPC | VGLSIGVERI | FYIVEQRMKT | KGEKVRTTET | QVFVATPQKN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FLQERLKLIA | ELWDSGIKAE | MLYKNNPKLL | TQLHYCESTG | IPLVVIIGEQ | ELKEGVIKIR |
| 490 | 500 | ||||
| SVASREEVAI | KRENFVAEIQ | KRLSES |