P12081
PR
Gene name |
HARS1 |
Protein name |
Histidine--tRNA ligase, cytoplasmic |
Names |
Histidyl-tRNA synthetase, HisRS |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3035 |
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
9 structures for P12081
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1X59 | NMR | - | A | 1-60 | PDB |
| 2LW7 | NMR | - | PDB | ||
| 4G84 | X-ray | 240 A | A/B | 54-506 | PDB |
| 4G85 | X-ray | 311 A | A/B | 1-506 | PDB |
| 4PHC | X-ray | 284 A | A/B/C/D | 1-509 | PDB |
| 4X5O | X-ray | 280 A | A/B | 1-509 | PDB |
| 5W6M | X-ray | 370 A | A/B | 54-503 | PDB |
| 6O76 | X-ray | 279 A | A/B | 1-509 | PDB |
| AF-P12081-F1 | Predicted | AlphaFoldDB |
424 variants for P12081
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001214963 rs1759420438 |
1 | M>T | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001297651 rs1759420210 |
2 | A>T | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000525701 RCV002461316 CA3444238 RCV000606943 rs78741041 VAR_069021 RCV001573133 |
5 | A>E | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA361191868 rs1461976080 RCV001237374 |
6 | A>G | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001615072 rs117579809 CA3444231 RCV000874252 |
14 | Q>K | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001211202 rs1394473077 RCV002561755 |
15 | G>R | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774632798 RCV000524753 RCV001001086 CA3444230 |
18 | V>M | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000801444 CA3444228 rs762976181 |
21 | L>F | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001041263 rs1759411593 |
21 | L>R | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000686860 rs1247070065 CA361191615 |
30 | L>M | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3444203 RCV001301604 rs377739193 |
34 | E>Q | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000650142 CA3444202 RCV001584068 RCV002461096 rs144588417 |
35 | V>M | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201729757 RCV001208199 |
39 | L>V | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001053028 rs1759376273 |
48 | D>N | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201398055 CA3444194 RCV000954564 |
52 | Q>P | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1758827286 RCV001208952 |
63 | R>K | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002241810 rs1758824887 RCV001266787 |
67 | P>L | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1581516557 CA361259318 RCV000806623 |
67 | P>S | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM240074 rs753788498 RCV000684911 CA3444166 |
68 | R>Q | prostate Usher syndrome type 3B [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs757279674 CA3444167 RCV001240386 RCV001644957 |
68 | R>W | Spastic ataxia Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3444162 RCV000701068 rs767325912 |
73 | R>H | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774017621 RCV000650145 CA3444160 RCV001001071 |
74 | E>K | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001315643 CA361259178 rs1247876038 |
79 | V>I | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3444156 RCV000688810 rs769340873 |
82 | R>C | Variant assessed as Somatic; impact. Usher syndrome type 3B [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP |
|
RCV001216183 rs1758818618 |
96 | V>* | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1758818266 RCV001050324 |
99 | L>R | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232554 rs1758613182 |
117 | L>V | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233100 rs1758612647 |
119 | D>Y | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749493279 COSM1739153 CA3444131 RCV000953789 |
122 | G>R | Usher syndrome type 3B haematopoietic_and_lymphoid_tissue Variant assessed as Somatic; 4.621e-05 impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs749493279 RCV001211453 CA361257714 |
122 | G>W | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3444129 RCV000540562 RCV002461095 RCV001567367 rs138582560 |
128 | R>C | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs748062451 CA3444128 RCV001226266 |
128 | R>H | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001092021 rs143473232 RCV000201522 CA210252 VAR_075064 |
132 | T>I | Autosomal dominant Charcot-Marie-Tooth disease type 2W CMT2W; loss-of-function variant [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
RCV000660862 CA361257482 rs1554107200 |
133 | V>F | Autosomal dominant Charcot-Marie-Tooth disease type 2W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA279335 VAR_075065 rs863225122 RCV000201516 |
134 | P>H | Autosomal dominant Charcot-Marie-Tooth disease type 2W CMT2W; loss-of-function variant [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000811811 CA361257390 rs1334234821 |
136 | A>V | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002460895 RCV000033152 CA130727 RCV000650143 RCV002247415 rs191391414 RCV000514458 VAR_069022 |
137 | R>Q | Autosomal dominant Charcot-Marie-Tooth disease type 2W Usher syndrome type 3B Inborn genetic diseases CMT2W; has a neurotoxic effect in an animal model; results in loss of function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1408800953 CA361257388 RCV001068515 RCV003132208 |
137 | R>W | Variant assessed as Somatic; impact. Usher syndrome type 3B [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA361257219 RCV002462907 RCV001295177 rs1408195908 |
144 | L>Q | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001230225 rs138035024 CA3444108 RCV002462852 |
149 | R>C | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs746887565 RCV000650150 CA361257060 |
153 | A>S | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002461268 RCV001214564 VAR_083003 RCV000515539 CA361257029 rs1239341211 |
155 | V>G | Autosomal dominant Charcot-Marie-Tooth disease type 2W Usher syndrome type 3B Inborn genetic diseases CMT2W; unknown pathological significance; fails to complement deletion of the yeast ortholog; decreases histidine-tRNA ligase activity; increases in the KM for ATP binding; does not disrupt dimerization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA3444098 RCV001318384 RCV002462929 rs373522589 |
165 | R>H | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000201520 rs863225123 CA279336 VAR_075066 |
175 | D>E | Autosomal dominant Charcot-Marie-Tooth disease type 2W CMT2W; hypomorphic variant [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA361256003 rs745780898 RCV000650151 |
176 | F>Y | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1758491184 RCV001054085 RCV001552239 |
182 | F>C | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322032 rs1758489449 |
188 | D>H | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232549 rs747711899 |
197 | E>K | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780654800 RCV001364152 CA3444061 |
201 | S>* | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000699267 CA361255464 RCV002462042 rs1562008815 |
204 | I>M | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000541318 CA3444059 VAR_069023 RCV000217228 rs147288996 RCV001636728 |
205 | G>D | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001644875 RCV001007619 rs1131040 CA361255445 |
206 | D>Y | Spastic ataxia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1562008284 RCV000791804 CA361255169 |
213 | D>E | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001348276 rs759634200 CA3444031 |
213 | D>N | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001304061 CA3444028 rs762921085 |
217 | L>P | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3444026 rs769535360 RCV001049861 |
219 | G>R | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001205399 rs1758469143 |
224 | C>missing | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001072019 rs1758468780 |
226 | V>D | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3444024 rs768076848 RCV000699134 RCV001000572 RCV002462039 RCV001756220 |
227 | S>A | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001320386 CA361254800 rs1416014791 |
230 | K>R | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM1061750 CA247145 RCV000179843 RCV002460958 RCV000556160 rs186526524 |
232 | R>C | endometrium Usher syndrome type 3B Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM1061748 CA3444022 RCV001071624 rs550778711 |
232 | R>H | Variant assessed as Somatic; 0.0 impact. liver endometrium Usher syndrome type 3B [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_069024 RCV001319519 rs536175170 CA3444021 |
238 | V>A | Usher syndrome type 3B CMT2W; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001308580 CA128377466 rs1053173778 |
243 | K>R | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001337580 rs748594458 |
251 | N>T | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA361253885 rs1319398620 RCV000690481 |
261 | P>R | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1758442472 RCV001300553 |
262 | E>K | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001246029 CA3443992 rs1050247 |
265 | D>E | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA3443990 rs765223763 RCV002462121 RCV000757351 RCV001047038 |
266 | R>H | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001064198 rs765223763 |
266 | R>L | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002463126 CA3443989 RCV002236500 rs766324898 |
267 | I>T | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002473151 rs149018062 RCV000818700 CA128377437 |
271 | V>I | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs763899763 RCV001316156 CA3443969 |
277 | V>I | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1379178692 CA361252961 RCV001217650 |
294 | Q>E | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs794727969 RCV000810871 RCV000180581 |
304 | L>missing | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001007621 RCV001644877 rs1581504953 |
305 | L>missing | Spastic ataxia Cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001339862 CA3443961 rs777214329 |
314 | I>T | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA128377413 rs910919096 RCV001309127 |
319 | S>F | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1554106881 RCV000515533 VAR_083004 RCV002527442 CA361251948 |
330 | Y>C | Autosomal dominant Charcot-Marie-Tooth disease type 2W Usher syndrome type 3B CMT2W; fails to complement deletion of the yeast ortholog; decreases histidine-tRNA ligase activity; increases in the KM for ATP binding; does not disrupt dimerization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000650147 CA361251849 rs1554106875 |
334 | V>M | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA361251751 RCV000650141 rs1370029240 |
337 | E>* | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001055667 rs1370029240 |
337 | E>K | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA361251652 RCV000707325 rs1562005331 |
343 | T>I | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA361251547 RCV000519456 rs1371763515 RCV001240270 |
349 | E>K | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001347407 rs1758395666 |
351 | P>L | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002461269 rs144322728 RCV000650140 RCV000515536 VAR_083005 CA3443931 |
356 | S>N | Autosomal dominant Charcot-Marie-Tooth disease type 2W Usher syndrome type 3B Inborn genetic diseases CMT2W; unknown pathological significance; fails to complement deletion of the yeast ortholog; decreases histidine-tRNA ligase activity; increases in the KM for ATP binding; does not disrupt dimerization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1210579780 CA361251389 RCV001344926 |
357 | V>M | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3443928 RCV000799320 rs751272874 |
362 | R>C | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs863225124 VAR_075067 CA279337 RCV000201523 |
364 | D>Y | Autosomal dominant Charcot-Marie-Tooth disease type 2W CMT2W; loss-of-function variant [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001796168 RCV000650146 rs753104645 CA128377406 |
371 | D>N | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001535484 RCV000534421 RCV001824342 rs774682373 CA3443919 RCV003159906 |
375 | R>C | Variant assessed as Somatic; 0.0 impact. Usher syndrome type 3 Usher syndrome type 3B Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000983870 COSM1209302 RCV002462241 CA3443918 rs151258227 |
375 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system Usher syndrome type 3B Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_069025 rs139447495 RCV001079234 RCV000844310 CA3443917 |
376 | K>R | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002462040 rs377410852 RCV000699182 CA3443916 |
378 | P>L | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001039688 rs1758381320 |
384 | I>N | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766493535 RCV002240643 RCV001074480 RCV002260682 CA3443909 |
386 | V>M | Usher syndrome type 3B Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000797653 CA361250650 rs1581503971 |
387 | E>G | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001351385 rs1758380241 RCV002282526 |
387 | E>K | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA128377382 RCV001339624 rs761949872 |
388 | R>W | Variant assessed as Somatic; impact. Usher syndrome type 3B [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001344025 RCV000825348 CA3443906 RCV002462191 rs192923161 |
393 | V>M | Variant assessed as Somatic; 0.0 impact. Usher syndrome type 3B Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001567640 rs34732372 VAR_061908 CA3443882 RCV000825070 RCV000559035 |
399 | A>V | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001205664 RCV003163559 rs1758288242 |
400 | L>F | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003127693 RCV001217845 CA3443880 RCV002562979 rs552434037 |
401 | E>Q | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001219683 rs147185134 RCV002285459 CA3443878 |
405 | R>Q | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002461963 RCV000650152 CA3443875 rs369070016 RCV001508174 |
406 | T>N | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3443873 rs760726168 RCV001318675 |
407 | T>M | Variant assessed as Somatic; 0.0 impact. Usher syndrome type 3B [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000801945 CA3443870 rs201011416 |
410 | Q>* | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA128376790 rs866572603 RCV001216839 RCV002462836 |
417 | Q>* | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1758283199 RCV001055820 |
419 | K>L | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779289896 RCV000822775 RCV002462189 |
419 | K>missing | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000650156 rs34790864 CA3443863 RCV000825071 RCV001592815 |
421 | L>V | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001049721 rs756193571 |
444 | K>missing | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000608744 rs387906639 RCV000623702 CA277969 RCV000022619 VAR_067918 |
454 | Y>S | Usher syndrome type 3B Inborn genetic diseases USH3B; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000808157 rs1204851184 CA361247446 |
457 | E>K | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000701574 rs891844407 RCV001775975 RCV000825171 CA128376664 |
458 | A>T | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs754304255 CA3443833 RCV001007622 RCV001644878 RCV001246783 RCV001814247 |
465 | I>L | Spastic ataxia Cerebellar ataxia Usher syndrome type 3B Peripheral neuropathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001062306 rs754304255 CA3443832 |
465 | I>V | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002230963 CA16621825 RCV000488199 rs372237777 |
467 | G>S | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000998447 rs199615869 RCV002461962 RCV000650149 CA3443829 |
468 | E>K | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA361247106 rs1405966952 RCV002462933 RCV001324364 |
469 | Q>H | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001355745 rs971012132 CA128376643 RCV001061946 |
474 | G>R | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1024985302 CA128376638 RCV000650148 |
478 | L>R | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA361246827 RCV000810222 rs1581500046 |
480 | S>L | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs376596538 RCV001352445 CA3443821 |
481 | V>A | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001086767 RCV000835736 rs147372931 RCV001073307 CA3443819 |
482 | T>M | Usher syndrome type 3B Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs771603866 RCV001201568 CA3443801 |
488 | D>N | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003160237 CA128376536 RCV001038296 rs373709175 |
490 | R>* | Usher syndrome type 3B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV001066838 CA361245717 rs1295541335 COSM3409783 |
490 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system Usher syndrome type 3B [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs138377835 CA3443799 RCV001343274 |
495 | V>A | Usher syndrome type 3B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3443794 VAR_069026 rs747156884 |
505 | P>S | CMT2W; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV001060681 rs1255236125 |
509 | C>F | Usher syndrome type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs911049624 CA128339969 |
3 | E>* | No |
ClinGen TOPMed |
|
|
CA361191902 rs1186978313 |
3 | E>A | No |
ClinGen gnomAD |
|
|
CA361191891 rs1476274255 |
4 | R>C | No |
ClinGen gnomAD |
|
|
rs530759208 CA3444236 |
6 | A>P | No |
ClinGen 1000Genomes ExAC |
|
|
rs1317317663 CA361191849 |
8 | E>G | No |
ClinGen gnomAD |
|
|
CA361191835 rs1377613921 |
9 | E>D | No |
ClinGen gnomAD |
|
|
CA3444233 rs752978465 |
9 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1284034567 CA361191798 |
13 | L>I | No |
ClinGen gnomAD |
|
|
rs1338240772 CA361191781 |
14 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1394473077 CA361191775 |
15 | G>* | No |
ClinGen gnomAD |
|
|
CA361191746 rs1286885230 |
17 | R>H | No |
ClinGen TOPMed |
|
|
CA361191754 rs1224828510 |
17 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 20 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766547643 CA3444229 |
20 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1411650269 CA361191690 |
23 | Q>R | No |
ClinGen gnomAD |
|
|
CA361191675 rs148516171 |
24 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 24 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3444226 rs769640201 |
25 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361191626 rs747831008 |
29 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs747831008 CA3444225 |
29 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs768408406 CA3444204 |
31 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361191552 rs1321938423 |
31 | I>T | No |
ClinGen Ensembl |
|
|
CA361191534 rs1224985546 |
33 | E>* | No |
ClinGen gnomAD |
|
|
rs1343032909 CA361191533 |
33 | E>V | No |
ClinGen gnomAD |
|
|
rs1581532058 CA361191511 |
35 | V>G | No |
ClinGen Ensembl |
|
|
CA361191514 rs144588417 |
35 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs572115838 CA128339839 |
36 | A>E | No |
ClinGen Ensembl |
|
|
CA361191490 rs201729757 |
39 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA128339832 rs11548125 |
43 | A>T | No |
ClinGen Ensembl |
|
|
CA3444198 rs770266234 |
44 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3444196 rs781720431 |
45 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs967869621 CA128339823 |
46 | G>D | No |
ClinGen TOPMed |
|
|
CA361191448 rs1428764089 |
46 | G>R | No |
ClinGen gnomAD |
|
|
CA128339820 rs967869621 |
46 | G>V | No |
ClinGen TOPMed |
|
|
CA3444195 rs755343236 |
47 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1281545114 CA361191436 |
48 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 52 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1022254858 CA128339813 |
53 | K>E | No |
ClinGen Ensembl |
|
|
CA361191387 rs1224153401 |
54 | F>L | No |
ClinGen TOPMed |
|
|
CA361191378 rs1462633739 |
56 | L>F | No |
ClinGen TOPMed |
|
|
CA3444192 rs758639159 |
57 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1486367666 CA361191371 |
57 | K>R | No |
ClinGen gnomAD |
|
|
rs750526549 CA3444191 |
58 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3444188 rs753737068 |
59 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs149336018 CA3444172 |
61 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs886060021 CA10620344 |
61 | G>D | No |
ClinGen Ensembl |
|
|
CA128379143 rs149336018 |
61 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1562018578 CA361259349 |
64 | D>E | No |
ClinGen Ensembl |
|
|
CA128379134 rs778888468 |
65 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444170 rs778888468 |
65 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200908212 CA128379127 |
66 | S>C | No |
ClinGen Ensembl |
|
|
CA361259330 rs1183561162 |
66 | S>T | No |
ClinGen TOPMed |
|
|
rs906500515 CA128379120 |
69 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs763952844 CA3444165 |
70 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444164 rs760602604 |
71 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs752549829 COSM275423 CA3444163 |
73 | R>C | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3444159 rs762482807 |
75 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs747494880 CA3444155 |
82 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128379095 rs988849986 |
85 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs775758650 COSM1209304 CA3444154 |
86 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3444153 rs555242163 |
86 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs181930530 CA128379089 |
87 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361259053 rs1265700824 |
88 | G>D | No |
ClinGen gnomAD |
|
|
CA3444151 rs574448668 |
88 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749438333 CA3444149 |
93 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444136 rs556459899 |
103 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361257982 rs1281935760 |
106 | K>R | No |
ClinGen gnomAD |
|
|
CA361257939 rs1366709742 |
109 | E>G | No |
ClinGen gnomAD |
|
|
rs1404942253 CA361257943 |
109 | E>K | No |
ClinGen gnomAD |
|
|
rs1305380207 CA361257905 |
111 | S>A | No |
ClinGen gnomAD |
|
|
rs368147707 CA3444135 |
112 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3444134 rs746177150 |
112 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 113 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3444133 rs774576832 |
114 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771201777 CA3444132 |
115 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1470199484 CA361257849 |
115 | Y>C | No |
ClinGen gnomAD |
|
|
CA361257796 rs1196636854 |
117 | L>R | No |
ClinGen gnomAD |
|
|
CA361257742 rs1480099636 |
120 | Q>R | No |
ClinGen gnomAD |
|
|
CA3444130 rs777872938 |
126 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs748062451 CA361257635 |
128 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128378013 rs781114051 |
129 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581510719 CA361257631 |
129 | Y>N | No |
ClinGen Ensembl |
|
|
CA3444127 rs781114051 |
129 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444125 rs143473232 |
132 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3444112 rs773377293 |
136 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1177599179 CA361257285 |
141 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA361257288 rs1177599179 |
141 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA361257302 rs1356781488 |
141 | M>V | No |
ClinGen TOPMed |
|
|
rs748323161 CA3444111 |
146 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA3444110 rs781115846 |
146 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183145366 CA361257128 |
149 | R>H | No |
ClinGen gnomAD |
|
|
CA128377791 rs369362031 |
152 | I>T | No |
ClinGen ESP |
|
|
CA3444107 rs746887565 |
153 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780023389 CA3444106 |
157 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361256996 rs1274278544 |
158 | R>Q | No |
ClinGen gnomAD |
|
|
CA128377784 rs939538495 |
158 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs750113259 CA361256973 |
159 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202212926 CA128377782 |
159 | D>G | No |
ClinGen gnomAD |
|
|
rs920668707 CA128377775 |
160 | N>K | No |
ClinGen Ensembl |
|
|
rs200294240 CA3444103 |
160 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA3444102 rs756856018 |
161 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3444101 rs753448470 |
162 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3444100 rs376561318 |
164 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376561318 CA361256908 |
164 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3444099 rs760132903 |
165 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA128377757 rs1042437427 |
167 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs766756604 CA3444097 |
167 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs146922029 CA3444095 |
169 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128377751 rs748357038 |
169 | R>W | No |
ClinGen Ensembl |
|
|
CA3444094 rs770055157 |
170 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128377741 rs1131045 |
173 | Q>H | No |
ClinGen Ensembl |
|
|
rs745780898 CA3444069 |
176 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs774329929 CA3444068 |
178 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA361255952 rs1229662874 |
180 | G>R | No |
ClinGen gnomAD |
|
|
rs1131042 CA128377494 |
181 | N>H | No |
ClinGen Ensembl |
|
|
CA128377493 rs1131041 |
181 | N>K | No |
ClinGen Ensembl |
|
|
CA361255905 rs1343601632 |
183 | D>H | No |
ClinGen gnomAD |
|
|
rs932907289 CA128377492 |
184 | P>S | No |
ClinGen Ensembl |
|
|
rs1369382901 CA361255868 |
185 | M>T | No |
ClinGen gnomAD |
|
|
CA361255872 rs1387154351 |
185 | M>V | No |
ClinGen gnomAD |
|
|
rs545343080 CA128377491 |
186 | I>T | No |
ClinGen Ensembl |
|
|
rs748995569 CA3444066 |
189 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544776545 CA128377490 |
191 | C>F | No |
ClinGen Ensembl |
|
| TCGA novel | 193 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 195 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3444064 rs777238077 |
195 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3444062 rs747711899 |
197 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1186268581 CA361255461 |
205 | G>R | No |
ClinGen gnomAD |
|
|
CA3444057 rs1131040 |
206 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| rs202162444 | 210 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361255172 rs1345370875 |
213 | D>V | No |
ClinGen TOPMed |
|
|
rs377006157 CA3444030 |
214 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1162043924 CA361255160 |
214 | R>Q | No |
ClinGen gnomAD |
|
|
CA361255152 rs766298530 |
215 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444029 rs766298530 |
215 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361255146 rs1384190729 |
215 | R>H | No |
ClinGen gnomAD |
|
|
CA3444027 rs374172904 |
218 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128377472 rs776226100 |
223 | I>T | No |
ClinGen TOPMed |
|
|
rs1050250 CA128377473 |
223 | I>V | No |
ClinGen Ensembl |
|
|
CA361254981 rs1276565685 |
224 | C>G | No |
ClinGen gnomAD |
|
|
rs1219932434 CA361254979 |
224 | C>Y | No |
ClinGen gnomAD |
|
|
CA361254955 rs1359030684 |
226 | V>I | No |
ClinGen gnomAD |
|
|
CA361254751 rs550778711 |
232 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361254761 rs186526524 |
232 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361254744 rs1411041310 |
233 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM3365874 rs1352847053 CA361254727 |
234 | I>V | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA361254713 rs1161488581 |
235 | C>S | No |
ClinGen TOPMed |
|
|
rs1163410668 CA361254557 |
240 | K>R | No |
ClinGen gnomAD |
|
|
rs1472897856 CA361254482 |
243 | K>E | No |
ClinGen gnomAD |
|
|
CA3443999 rs770291420 |
244 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1413731817 CA361254248 |
246 | W>* | No |
ClinGen TOPMed |
|
|
CA361254190 RCV000757350 rs1261330102 |
248 | E>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA361254203 rs1331253546 |
248 | E>K | No |
ClinGen gnomAD |
|
|
CA361254174 rs1261330102 |
248 | E>V | No |
ClinGen gnomAD |
|
|
CA361254161 rs1223501940 RCV000825933 |
249 | V>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA361254166 rs1223501940 |
249 | V>M | No |
ClinGen gnomAD |
|
|
CA3443998 rs748594458 |
251 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3443995 rs755191584 |
256 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA361253977 rs1379091280 |
257 | K>Q | No |
ClinGen gnomAD |
|
|
CA128377440 rs892670128 |
264 | A>S | No |
ClinGen Ensembl |
|
|
CA3443991 rs575673293 |
266 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA361253804 rs575673293 |
266 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1581505696 CA361253705 |
270 | Y>H | No |
ClinGen Ensembl |
|
|
CA361253666 RCV001000678 rs149018062 |
271 | V>L | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
CA361253634 rs1474277005 |
272 | Q>* | No |
ClinGen gnomAD |
|
|
rs763846364 CA3443987 |
274 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA361253514 rs1239726118 |
275 | G>D | No |
ClinGen gnomAD |
|
|
rs755882900 CA3443968 |
280 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 281 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1050246 CA128377418 |
284 | L>V | No |
ClinGen Ensembl |
|
|
CA361253194 rs1002771462 |
288 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1002771462 CA128377417 |
288 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA361253122 rs1331255110 |
291 | Q>* | No |
ClinGen TOPMed |
|
|
rs570563409 CA128377416 |
295 | A>T | No |
ClinGen gnomAD |
|
|
CA361252775 rs1285433693 |
298 | G>V | No |
ClinGen gnomAD |
|
|
rs146835587 CA3443966 |
301 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3443964 rs774041144 |
303 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416944591 CA361252455 |
312 | F>C | No |
ClinGen TOPMed |
|
|
rs868069845 CA361252373 |
315 | D>N | No |
ClinGen TOPMed |
|
|
rs868069845 CA128377414 |
315 | D>Y | No |
ClinGen TOPMed |
|
|
rs1412138621 CA361252341 |
316 | D>G | No |
ClinGen TOPMed |
|
|
CA361252140 rs1479741739 |
321 | D>N | No |
ClinGen gnomAD |
|
|
rs1012675707 CA361252071 |
323 | S>R | No |
ClinGen gnomAD |
|
|
rs751221500 CA3443946 |
325 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361252027 COSM275421 rs1248042019 |
326 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs765994836 CA3443945 |
326 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361252015 rs1463994697 |
327 | G>R | No |
ClinGen gnomAD |
|
|
CA361251889 rs1204082121 |
332 | T>A | No |
ClinGen TOPMed |
|
|
CA3443941 rs761057148 |
333 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs550741919 CA3443938 |
338 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1483776550 CA361251713 |
339 | V>M | No |
ClinGen TOPMed |
|
|
CA361251696 rs1434475518 |
341 | L>Q | No |
ClinGen gnomAD |
|
|
CA3443937 rs146571500 |
344 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3443935 rs771009808 |
345 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs774488179 CA361251633 |
345 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3443936 rs774488179 |
345 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3443934 rs777707690 |
346 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs777707690 CA3443933 |
346 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1177270563 CA361251587 |
347 | A>P | No |
ClinGen gnomAD |
|
|
CA361251485 rs1426833293 |
352 | L>Q | No |
ClinGen gnomAD |
|
|
rs1186354481 CA361251474 |
353 | G>C | No |
ClinGen gnomAD |
|
|
CA361251462 rs1464150154 |
353 | G>D | No |
ClinGen gnomAD |
|
|
CA361251479 rs1186354481 |
353 | G>S | No |
ClinGen gnomAD |
|
|
rs1313670595 CA361251332 |
359 | A>G | No |
ClinGen gnomAD |
|
|
CA361251339 rs1562005042 |
359 | A>T | No |
ClinGen Ensembl |
|
|
rs754757527 CA3443929 |
361 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1366160962 CA361251284 |
362 | R>H | No |
ClinGen gnomAD |
|
|
CA361251264 rs1402131324 |
363 | Y>C | No |
ClinGen gnomAD |
|
|
CA361251269 rs1394310526 |
363 | Y>H | No |
ClinGen gnomAD |
|
|
rs1468024757 CA361251190 |
367 | V>L | No |
ClinGen gnomAD |
|
|
rs1176493747 CA361251168 |
368 | G>S | No |
ClinGen Ensembl |
|
|
rs764631385 CA3443924 |
369 | M>T | No |
ClinGen ExAC TOPMed |
|
|
CA3443925 rs749991162 |
369 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3443922 rs753104645 |
371 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs767871289 CA3443921 |
372 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759835894 CA3443920 |
373 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361251009 rs1227366189 |
374 | G>A | No |
ClinGen TOPMed |
|
|
CA361250948 rs1236403537 |
377 | V>L | No |
ClinGen TOPMed |
|
|
rs768703211 CA3443911 |
384 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1398354062 CA361250676 |
386 | V>G | No |
ClinGen gnomAD |
|
|
rs758173527 CA3443908 |
388 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA361250622 rs1430747710 |
389 | I>F | No |
ClinGen gnomAD |
|
|
rs1433108717 CA361250547 |
391 | S>F | No |
ClinGen TOPMed |
|
|
rs1581503912 CA361250544 |
392 | I>V | No |
ClinGen Ensembl |
|
|
CA3443904 rs753260357 |
397 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs768069083 CA3443903 |
398 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1562001863 CA361248980 |
399 | A>T | No |
ClinGen Ensembl |
|
|
CA3443881 rs552434037 |
401 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361248882 rs1341168705 |
402 | E>D | No |
ClinGen gnomAD |
|
|
CA361248898 rs1159574820 |
402 | E>G | No |
ClinGen TOPMed |
|
|
CA128376814 rs942265443 |
402 | E>K | No |
ClinGen Ensembl |
|
| rs748455791 | 402 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361248822 rs1331813676 |
404 | I>T | No |
ClinGen gnomAD |
|
|
rs147185134 CA3443877 |
405 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs908109064 CA128376808 |
405 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs762066498 CA3443876 |
406 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs764221526 CA3443874 |
407 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA361248653 rs1170618565 |
414 | A>V | No |
ClinGen gnomAD |
|
|
rs777282804 CA3443866 |
419 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3443867 rs748944828 |
419 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs779289896 | 419 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472233729 CA361248394 |
423 | E>Q | No |
ClinGen TOPMed |
|
|
rs1010687306 CA128376773 |
424 | R>K | No |
ClinGen gnomAD |
|
|
rs780599685 CA3443862 |
426 | K>N | No |
ClinGen ExAC |
|
|
CA361248278 rs1276957068 |
428 | V>I | No |
ClinGen gnomAD |
|
|
CA3443861 rs758941515 |
429 | S>L | No |
ClinGen ExAC TOPMed |
|
|
CA3443860 rs750797285 |
430 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3443859 rs779315073 |
433 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs976584517 CA128376761 |
435 | G>E | No |
ClinGen TOPMed |
|
|
rs754073155 CA3443857 |
437 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1163697170 CA361248076 |
437 | K>R | No |
ClinGen TOPMed |
|
| rs1258248755 | 438 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779176909 CA3443839 |
442 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1200977462 CA361247859 |
443 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1200977462 CA361247863 |
443 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA361247740 rs1473430099 |
446 | P>R | No |
ClinGen gnomAD |
|
|
rs565372083 CA128376673 |
446 | P>T | No |
ClinGen 1000Genomes |
|
|
rs957882499 CA128376670 |
449 | L>P | No |
ClinGen Ensembl |
|
|
CA3443837 rs757575637 |
451 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs778198496 CA3443836 |
456 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA128376661 rs756399458 |
460 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756399458 CA3443835 |
460 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 462 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139699964 CA3443834 |
463 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs544072184 CA3443831 |
465 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766088180 CA361247217 |
466 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361247190 rs372237777 |
467 | G>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs199615869 CA361247165 |
468 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761312210 CA3443828 |
469 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs368359061 CA3443825 |
475 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761435987 CA3443826 |
475 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3443824 rs768174431 |
479 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs746366104 CA3443823 |
479 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774864563 CA3443822 |
481 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs147372931 CA3443820 |
482 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749788434 CA3443800 |
488 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1434406868 CA361245706 |
491 | R>K | No |
ClinGen gnomAD |
|
|
rs1366581698 CA361245660 |
493 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 494 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423976032 CA361245642 |
495 | V>L | No |
ClinGen gnomAD |
|
|
CA361245623 rs1464968938 |
496 | E>G | No |
ClinGen gnomAD |
|
|
rs1358994620 CA361245575 |
498 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA361245537 rs1177200945 |
500 | R>S | No |
ClinGen gnomAD |
|
|
CA3443798 rs770240713 |
501 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3443797 rs748318331 |
501 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA3443796 rs781414119 |
503 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs373031468 CA128376534 |
503 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs368813043 CA3443795 |
504 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361245467 rs747156884 |
505 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA361245469 rs747156884 |
505 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA128376531 rs150090766 |
507 | C>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs150090766 CA3443793 |
507 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1255236125 CA361245398 |
509 | C>Y | No |
ClinGen gnomAD |
No associated diseases with P12081
17 regional properties for P12081
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | NGN domain | 183 - 265 | IPR005100 |
| domain | KOW | 273 - 300 | IPR005824-1 |
| domain | KOW | 425 - 452 | IPR005824-2 |
| domain | KOW | 477 - 522 | IPR005824-3 |
| domain | KOW | 601 - 628 | IPR005824-4 |
| domain | KOW | 712 - 739 | IPR005824-5 |
| domain | KOW | 988 - 1015 | IPR005824-6 |
| conserved_site | Ribosomal protein L24/L26, conserved site | 429 - 446 | IPR005825 |
| domain | NusG-like, N-terminal | 181 - 268 | IPR006645 |
| domain | Spt5 transcription elongation factor, N-terminal | 90 - 177 | IPR022581 |
| domain | NGN domain, eukaryotic | 183 - 266 | IPR039385 |
| domain | Spt5, KOW domain repeat 1 | 277 - 314 | IPR041973 |
| domain | Spt5, KOW domain repeat 2 | 426 - 476 | IPR041975 |
| domain | Spt5, KOW domain repeat 3 | 477 - 527 | IPR041976 |
| domain | Spt5, KOW domain repeat 4 | 605 - 647 | IPR041977 |
| domain | Spt5, KOW domain repeat 5 | 711 - 758 | IPR041978 |
| domain | Spt5, KOW domain repeat 6 | 982 - 1039 | IPR041980 |
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 |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
4 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. |
| mitochondrial translation | The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. |
| 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 |
|---|---|---|---|---|
| A5D7V9 | HARS2 | Histidine--tRNA ligase, mitochondrial | Bos taurus (Bovine) | PR |
| Q2KI84 | HARS1 | Histidine--tRNA ligase, cytoplasmic | Bos taurus (Bovine) | PR |
| P49590 | HARS2 | Histidine--tRNA ligase, mitochondrial | Homo sapiens (Human) | PR |
| Q99KK9 | Hars2 | Histidine--tRNA ligase, mitochondrial | Mus musculus (Mouse) | PR |
| Q61035 | Hars1 | Histidine--tRNA ligase, cytoplasmic | 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 |
| MAERAALEEL | VKLQGERVRG | LKQQKASAEL | IEEEVAKLLK | LKAQLGPDES | KQKFVLKTPK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GTRDYSPRQM | AVREKVFDVI | IRCFKRHGAE | VIDTPVFELK | ETLMGKYGED | SKLIYDLKDQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GGELLSLRYD | LTVPFARYLA | MNKLTNIKRY | HIAKVYRRDN | PAMTRGRYRE | FYQCDFDIAG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NFDPMIPDAE | CLKIMCEILS | SLQIGDFLVK | VNDRRILDGM | FAICGVSDSK | FRTICSSVDK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LDKVSWEEVK | NEMVGEKGLA | PEVADRIGDY | VQQHGGVSLV | EQLLQDPKLS | QNKQALEGLG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DLKLLFEYLT | LFGIDDKISF | DLSLARGLDY | YTGVIYEAVL | LQTPAQAGEE | PLGVGSVAAG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GRYDGLVGMF | DPKGRKVPCV | GLSIGVERIF | SIVEQRLEAL | EEKIRTTETQ | VLVASAQKKL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LEERLKLVSE | LWDAGIKAEL | LYKKNPKLLN | QLQYCEEAGI | PLVAIIGEQE | LKDGVIKLRS |
| 490 | 500 | ||||
| VTSREEVDVR | REDLVEEIKR | RTGQPLCIC |