Q5T160
PR
Gene name |
RARS2 (RARSL) |
Protein name |
Probable arginine--tRNA ligase, mitochondrial |
Names |
Arginyl-tRNA synthetase, ArgRS |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57038 |
EC number |
6.1.1.19: 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 Q5T160
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5T160-F1 | Predicted | AlphaFoldDB |
523 variants for Q5T160
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001251132 rs774923951 RCV001310929 |
1 | M>L | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001806024 RCV001093190 rs199862050 RCV002482168 |
1 | M>R | Pontocerebellar hypoplasia type 6 Pontoneocerebellar hypoplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000680147 rs774923951 RCV000210553 RCV000657931 |
1 | M>V | Pontocerebellar hypoplasia type 6 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760114539 CA3916857 RCV002051916 RCV001089497 |
2 | A>V | Variant assessed as Somatic; 0.0 impact. Pontocerebellar hypoplasia type 6 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3916849 CA3916852 RCV001832231 rs769498821 RCV000976226 rs545377358 TCGA novel |
5 | F>L | Variant assessed as Somatic; impact. Pontocerebellar hypoplasia type 6 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinGen ExAC TOPMed gnomAD ClinVar 1000Genomes dbSNP |
|
CA320816 RCV001705131 RCV001833149 rs201693843 |
7 | R>C | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002524510 RCV000343741 rs371367255 CA3916841 |
9 | I>T | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1776518694 RCV001254879 |
10 | A>V | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA129531 rs147391618 RCV000816795 RCV000023899 RCV000623258 |
12 | Q>R | Pontocerebellar hypoplasia type 6 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002489215 rs777942571 RCV000493905 |
15 | R>missing | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768728673 RCV001278032 CA3916783 |
37 | E>G | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000200441 RCV001273019 CA325015 rs863224185 |
51 | E>G | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000388565 CA289007 RCV000118122 RCV000676835 rs73496064 |
52 | K>I | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000490434 rs1085307089 |
64 | Q>missing | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1562212838 CA364939584 RCV000680081 |
72 | L>V | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs749061654 RCV000292981 CA3916707 RCV000941300 |
82 | S>N | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA364939175 RCV001278031 rs1562212642 |
88 | V>I | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000502246 rs1554203400 |
124 | Q>missing | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16043616 RCV002248649 RCV000414873 RCV001764348 rs1057519014 |
136 | V>A | Severe intellectual deficiency Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000200004 COSM197865 rs772887102 CA324551 RCV000210707 RCV000626035 RCV002228881 |
140 | F>C | Variant assessed as Somatic; 0.0 impact. large_intestine Pontocerebellar hypoplasia type 6 Inborn genetic diseases Pontoneocerebellar hypoplasia [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000489086 RCV000765898 CA3916641 rs143389605 |
148 | T>A | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000987752 CA364933899 rs1582576986 |
150 | I>T | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757743894 RCV000199643 RCV000850512 RCV002271457 |
158 | K>missing | Pontocerebellar hypoplasia type 6 Pontoneocerebellar hypoplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042995 RCV001784586 rs774755297 |
159 | E>missing | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001332320 RCV001586132 rs1260340118 CA364933069 |
163 | H>R | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1782401252 RCV001266271 |
167 | R>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001223741 rs755936301 RCV002469355 |
212 | E>missing | Pontoneocerebellar hypoplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1562102337 CA364929775 RCV001278030 |
213 | A>T | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000118126 RCV000999762 RCV000676832 CA154884 rs35862137 |
235 | V>M | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001278029 CA3916546 rs771897965 RCV002541671 |
237 | A>T | Pontocerebellar hypoplasia type 6 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs140692271 CA3916535 RCV000372032 RCV001723960 RCV000501102 |
252 | Y>N | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001833150 CA322779 rs863224179 RCV000198271 |
253 | I>V | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA323244 RCV000765897 rs145297855 COSM1082364 RCV000727871 |
258 | R>H | endometrium Pontocerebellar hypoplasia type 6 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs139721632 RCV000765896 CA321397 RCV000196972 |
273 | R>L | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs139721632 CA325140 RCV000266998 RCV002054339 |
273 | R>P | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000779649 RCV001553691 RCV001258003 rs1258569046 CA364928605 RCV001869150 |
283 | L>Q | Congenital cerebellar hypoplasia Pontocerebellar hypoplasia type 6 Pontoneocerebellar hypoplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs17850652 VAR_037800 RCV000676831 RCV000328822 CA154886 RCV000118127 |
291 | K>R | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001281467 rs771274749 CA3916467 RCV002537914 |
301 | L>F | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA325286 rs199835443 RCV000200708 RCV000995853 |
315 | R>* | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003133604 RCV000794491 rs773838753 |
322 | Y>missing | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000199049 CA323585 RCV001828030 rs774506039 |
324 | T>A | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000676830 RCV000399916 CA289011 rs3757370 VAR_037801 RCV000118128 |
331 | I>V | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000987751 rs34647222 VAR_085048 RCV000195456 CA319794 RCV001290636 |
342 | M>I | Pontocerebellar hypoplasia type 6 Pontoneocerebellar hypoplasia found in a patient with late onset progressive myoclonus epilepsy; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs387907048 CA129529 RCV002468977 RCV000023898 |
342 | M>V | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs756696262 RCV002517124 RCV000194218 |
352 | K>missing | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001828031 rs200101535 CA321791 RCV000197332 |
362 | K>N | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001334068 rs1773191232 |
390 | V>I | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000877366 CA3916365 rs200547165 RCV001280524 |
412 | K>N | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000987750 CA3916339 rs764875815 |
428 | G>R | Variant assessed as Somatic; 0.0 impact. Pontocerebellar hypoplasia type 6 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1772724414 RCV001332318 |
434 | I>missing | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000454292 rs775295739 CA3916314 RCV002522741 RCV002225614 RCV002282147 |
443 | S>P | Inborn genetic diseases Pontoneocerebellar hypoplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002271456 RCV000312542 RCV000197557 CA322017 rs147844153 |
456 | R>C | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV001160817 CA3916308 RCV002558525 rs144447777 |
456 | R>H | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs758894784 CA3916306 RCV001254170 |
457 | G>R | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3916298 RCV000662082 RCV001855398 rs767150990 |
469 | R>C | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002500978 CA142840621 RCV000757711 rs759331139 RCV002282353 |
469 | R>H | Variant assessed as Somatic; 0.0 impact. Pontocerebellar hypoplasia type 6 Pontoneocerebellar hypoplasia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA324732 RCV000397935 RCV002517254 RCV000200173 rs760844669 |
480 | G>E | Pontoneocerebellar hypoplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001829392 rs775657290 RCV000487313 CA3916268 |
481 | Y>C | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000337832 RCV001861295 RCV000507727 CA3916261 rs200632524 |
498 | I>V | Variant assessed as Somatic; 4.62e-05 impact. Pontocerebellar hypoplasia type 6 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001312080 RCV000578317 CA3916228 rs765088174 |
515 | D>G | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs754610170 RCV002486337 RCV001382857 |
519 | R>missing | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001089498 rs201386427 RCV001862656 CA3916223 |
522 | V>I | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000626036 rs781417096 |
538 | T>missing | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142348911 CA323332 RCV000876202 RCV000404282 RCV000198807 RCV002517253 |
546 | P>L | Pontocerebellar hypoplasia type 6 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001280523 rs1770872960 |
559 | V>I | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000945172 CA3916159 rs562472225 RCV001273122 |
560 | R>C | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA322233 RCV000765895 RCV000197761 rs756502974 |
560 | R>H | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs144242932 CA142839419 RCV000624766 RCV001821757 RCV001273016 |
570 | L>F | Pontocerebellar hypoplasia type 6 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
rs863224184 RCV000198541 RCV001833152 |
576 | C>missing | Pontocerebellar hypoplasia type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3916859 rs767720724 |
2 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA3916858 rs767720724 |
2 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs762495974 CA3916854 |
3 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766880364 COSM1622009 CA3916855 |
3 | C>F | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs762495974 CA364919847 |
3 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364919871 rs766880364 |
3 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364919806 rs1361286120 |
4 | G>A | No |
ClinGen gnomAD |
|
|
rs772692869 CA364919815 |
4 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361286120 CA364919809 |
4 | G>D | No |
ClinGen gnomAD |
|
|
CA364919833 rs772692869 |
4 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3916853 rs772692869 |
4 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA142841721 rs769498821 |
5 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201899366 CA3916848 |
6 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3916847 rs746997135 |
6 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749446134 CA3916845 |
7 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 7 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364919694 rs749446134 |
7 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA3916846 rs201693843 |
7 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA142841695 rs770304710 |
8 | A>G | No |
ClinGen TOPMed |
|
|
CA364919671 rs756422212 |
8 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3916843 rs756422212 |
8 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3916842 rs748335175 |
9 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755340864 CA3916840 |
10 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3916836 rs766850119 |
11 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1554230097 CA3916837 |
11 | C>Y | No |
ClinGen Ensembl |
|
|
rs368985469 CA364919445 |
12 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs368985469 CA142841669 |
12 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA364919418 rs1400563423 |
12 | Q>H | No |
ClinGen gnomAD |
|
|
rs368985469 CA364919455 |
12 | Q>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA364942268 rs1336737845 |
14 | S>P | No |
ClinGen gnomAD |
|
|
CA142880685 rs967296841 |
15 | R>G | No |
ClinGen Ensembl |
|
|
rs576183608 CA142880680 |
15 | R>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs772384834 CA3916795 |
16 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746198253 CA3916794 |
18 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 19 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3916793 rs779443645 |
20 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA364942230 rs779443645 |
20 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368016647 CA3916791 |
21 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1309960470 CA364942182 |
27 | S>L | No |
ClinGen TOPMed |
|
|
CA3916788 rs759456222 |
30 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1422256995 CA364942162 |
31 | V>L | No |
ClinGen Ensembl |
|
|
rs374955606 CA142880626 |
32 | P>R | No |
ClinGen ESP |
|
|
rs201671401 CA3916787 |
32 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1288063911 CA364942152 |
33 | I>V | No |
ClinGen gnomAD |
|
|
rs766488243 CA3916786 |
35 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs758252138 CA3916746 |
37 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs750163147 CA3916745 |
39 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs765275548 CA3916744 |
42 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353798556 CA364941069 |
44 | L>F | No |
ClinGen gnomAD |
|
|
CA3916743 rs757181326 |
45 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 46 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456914275 COSM1446347 CA364940953 |
48 | S>Y | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3916742 rs752788922 |
49 | L>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000199562 CA324106 rs73496064 |
52 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs756101515 RCV001222539 |
53 | D>* | No |
ClinVar dbSNP |
|
|
rs774600255 CA364940869 |
53 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338388806 CA364940842 |
54 | N>S | No |
ClinGen gnomAD |
|
|
CA3916737 rs763435226 |
55 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361183505 CA364940809 |
56 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 56 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364940771 rs1290860895 |
58 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA364940754 rs1456548023 |
59 | P>S | No |
ClinGen gnomAD |
|
|
rs1368278688 CA364940744 |
60 | D>G | No |
ClinGen gnomAD |
|
|
CA142877578 rs753118225 |
61 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs773447656 CA3916736 |
62 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA142877572 rs200539266 |
63 | V>I | No |
ClinGen Ensembl |
|
|
CA142877568 rs1047201601 |
64 | Q>* | No |
ClinGen TOPMed |
|
|
rs863224177 CA322381 RCV000197915 |
66 | K>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA364940572 rs1193496801 |
66 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA142877561 rs927135458 |
67 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3916734 rs748605026 |
68 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs931001736 CA364940525 |
69 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs931001736 CA142877533 |
69 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746485365 CA3916731 |
71 | K>R | No |
ClinGen ExAC |
|
|
rs1329868134 CA364939520 |
74 | C>W | No |
ClinGen gnomAD |
|
|
CA3916710 rs371968758 |
75 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1330587879 CA364939519 |
75 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1582712331 RCV000807811 |
78 | V>missing | No |
ClinVar dbSNP |
|
|
rs1424223477 CA364939434 |
79 | S>G | No |
ClinGen TOPMed |
|
|
CA364939284 rs1392965482 |
83 | T>S | No |
ClinGen TOPMed |
|
|
rs1410860058 CA364939176 |
87 | T>I | No |
ClinGen gnomAD |
|
|
CA3916706 rs777750134 |
89 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1465112925 CA364939091 |
91 | K>R | No |
ClinGen gnomAD |
|
|
rs1388454474 CA364939028 |
93 | N>D | No |
ClinGen TOPMed |
|
|
rs1377641024 CA364939007 COSM3662755 |
93 | N>K | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA364938970 rs1195135380 |
95 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3916688 rs375210095 |
100 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293760591 CA364937316 |
101 | V>G | No |
ClinGen TOPMed |
|
|
rs777482341 CA3916687 |
102 | L>Q | No |
ClinGen ExAC |
|
|
rs1282745457 CA364937280 |
103 | Q>* | No |
ClinGen gnomAD |
|
|
CA364937291 rs1282745457 |
103 | Q>E | No |
ClinGen gnomAD |
|
|
RCV001312081 rs1582645634 |
104 | Q>missing | No |
ClinVar dbSNP |
|
|
CA3916685 rs747983014 |
104 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364937229 rs1582645593 |
105 | V>G | No |
ClinGen Ensembl |
|
|
rs1315332612 CA364937243 |
105 | V>I | No |
ClinGen gnomAD |
|
|
rs1389239057 CA364937215 |
106 | I>S | No |
ClinGen TOPMed |
|
|
rs778609946 CA3916684 |
106 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs750490956 CA3916682 |
108 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3916679 rs754259032 |
115 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA142870493 rs925837720 |
117 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 119 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364936891 rs1359188497 |
121 | G>V | No |
ClinGen TOPMed |
|
|
rs764495159 CA3916678 |
126 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3916677 rs756676518 |
127 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA142870490 rs978723586 |
132 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3916651 rs755448382 |
135 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA3916650 rs751087240 |
135 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762621463 CA3916648 |
136 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs938688628 CA142864945 |
138 | K>R | No |
ClinGen gnomAD |
|
|
CA3916647 rs377591456 |
141 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_085046 rs761568260 CA3916646 |
142 | V>A | found in a patient with progressive myoclonus epilepsy and dementia; unknown pathological significance [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs768479877 CA3916645 |
146 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3916643 rs746885661 |
146 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3916644 rs768479877 |
146 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA142864930 rs990070255 |
147 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 147 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364933972 rs143389605 |
148 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749357809 CA3916639 |
149 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364933910 rs1391075918 |
150 | I>L | No |
ClinGen TOPMed |
|
|
CA364933354 rs1377295140 |
151 | G>E | No |
ClinGen gnomAD |
|
|
CA364933332 rs1453274357 |
152 | N>D | No |
ClinGen gnomAD |
|
|
rs573353472 CA3916621 |
154 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773279035 CA3916620 |
155 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364933219 rs1233444134 |
156 | N>T | No |
ClinGen TOPMed |
|
|
RCV000519153 CA364933177 rs1554196985 |
158 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA364933144 rs1203086013 |
160 | A>T | No |
ClinGen TOPMed |
|
|
CA3916618 rs769923899 |
163 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA142863016 rs368739929 |
163 | H>Q | No |
ClinGen ESP TOPMed |
|
|
rs1194787776 CA364933048 |
164 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 165 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486011542 CA364933013 |
166 | I>M | No |
ClinGen gnomAD |
|
|
CA364933022 rs1244447339 |
166 | I>V | No |
ClinGen TOPMed |
|
|
CA364932960 rs1219195313 |
169 | N>S | No |
ClinGen gnomAD |
|
|
CA364932925 rs1562153038 |
171 | L>F | No |
ClinGen Ensembl |
|
|
rs769045045 CA364932895 |
173 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs769045045 CA3916613 |
173 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1238297302 CA364932863 |
174 | W>C | No |
ClinGen gnomAD |
|
|
CA3916611 rs780593538 |
176 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs747348332 CA3916612 |
176 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA364932830 rs1381697699 |
177 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 179 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA142859927 rs1041393327 |
180 | L>F | No |
ClinGen TOPMed |
|
|
rs1456272968 CA364931919 |
182 | G>E | No |
ClinGen gnomAD |
|
|
rs945981260 CA142859919 |
183 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 183 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 184 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 188 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364931796 rs1235165100 |
189 | G>D | No |
ClinGen TOPMed |
|
|
CA142859903 rs894439979 |
190 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA364931716 rs1232135453 |
193 | K>E | No |
ClinGen gnomAD |
|
|
rs1482553533 CA364931694 |
193 | K>N | No |
ClinGen TOPMed |
|
|
CA142859844 rs1057165128 |
195 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA142859843 rs781756436 |
195 | Q>R | No |
ClinGen Ensembl |
|
|
CA3916588 rs748735045 |
196 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3916587 rs777637227 |
197 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs571919577 CA3916585 |
197 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs571919577 CA3916586 |
197 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs767374537 CA3916584 |
198 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA142859811 rs938887836 |
200 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 200 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364931551 rs1310599081 |
201 | H>D | No |
ClinGen gnomAD |
|
|
CA3916582 rs548514710 |
201 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 204 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 205 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA142848435 rs994199900 |
205 | V>A | No |
ClinGen Ensembl |
|
|
rs764110195 CA3916562 |
205 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 206 | Y>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575057271 CA3916558 |
213 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA142848400 rs763956821 |
214 | A>S | No |
ClinGen Ensembl |
|
|
RCV002517252 RCV000199759 rs863224178 CA324308 |
214 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1271839069 CA364929751 |
215 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs369668325 CA142848376 |
216 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs774513748 CA3916556 |
217 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA364929715 rs1428008906 |
218 | S>I | No |
ClinGen gnomAD |
|
|
CA364929713 rs1428008906 |
218 | S>N | No |
ClinGen gnomAD |
|
|
CA142848312 rs908357709 |
218 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs760622922 CA3916555 |
219 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1038751214 CA142848296 |
220 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA142848294 rs890000875 |
225 | E>Q | No |
ClinGen Ensembl |
|
|
rs772883831 CA3916553 |
225 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA142848287 rs746878020 |
227 | F>S | No |
ClinGen Ensembl |
|
|
RCV000760580 CA3916552 rs769473411 |
229 | R>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA3916551 rs747644029 |
229 | R>Q | Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3916549 rs768185386 |
231 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3916548 rs184918189 |
233 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM241356 rs1224556490 CA364929508 |
234 | D>N | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1213423245 CA364929434 |
238 | L>R | No |
ClinGen gnomAD |
|
|
rs750319167 CA364929419 |
239 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA364929425 rs1273146842 |
239 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs750319167 CA3916545 |
239 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA364929427 rs1273146842 |
239 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA364929408 rs1212355767 |
240 | L>R | No |
ClinGen gnomAD |
|
|
CA3916543 rs145499324 |
242 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364929378 rs1338097995 |
242 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236137657 CA364929363 |
243 | K>R | No |
ClinGen TOPMed |
|
|
rs979474350 CA364929342 |
244 | F>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 244 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs979474350 CA142848208 |
244 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3916542 rs767785738 |
245 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751977606 CA3916540 |
246 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537196276 CA3916538 |
248 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149674406 CA142848166 |
249 | I>T | No |
ClinGen ESP |
|
| TCGA novel | 251 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364929202 rs1251345542 |
252 | Y>C | No |
ClinGen gnomAD |
|
|
CA142848098 rs776211529 |
254 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3916533 rs151021900 |
254 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3916532 rs151021900 |
254 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776211529 COSM1672602 CA3916534 |
254 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs779929459 CA364929168 |
255 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436757377 CA364929166 |
255 | V>G | No |
ClinGen gnomAD |
|
|
rs779929459 CA3916531 |
255 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779929459 CA364929169 |
255 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA142848071 rs771301153 |
256 | Y>F | No |
ClinGen Ensembl |
|
|
rs960558327 CA142848055 |
257 | K>E | No |
ClinGen gnomAD |
|
|
CA364929112 rs1215793828 |
257 | K>R | No |
ClinGen gnomAD |
|
|
CA320574 COSM366850 RCV000196151 rs863224186 |
258 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs145297855 CA142847020 |
258 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA142847012 rs1002729156 |
260 | G>R | No |
ClinGen TOPMed |
|
|
CA3916512 rs774075596 |
261 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs749185497 CA3916510 |
264 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1776810581 RCV001225014 |
270 | S>* | No |
ClinVar dbSNP |
|
|
CA3916509 rs777737159 |
273 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139721632 CA3916508 |
273 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1409360332 CA364928689 |
276 | S>T | No |
ClinGen gnomAD |
|
|
rs758622612 CA3916507 |
277 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3916506 rs541352251 |
278 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541352251 CA3916505 |
278 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757868591 CA3916504 |
279 | V>A | No |
ClinGen ExAC |
|
|
CA364928636 RCV001064292 rs1256144022 |
280 | L>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA364928618 rs1450149291 |
281 | K>N | No |
ClinGen TOPMed |
|
|
CA829280793 rs1360901964 |
281 | K>N | No |
ClinGen TOPMed |
|
|
rs764639091 CA3916501 |
284 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1013045059 CA142846883 |
284 | E>K | No |
ClinGen Ensembl |
|
|
CA142846859 rs113367519 |
285 | S>R | No |
ClinGen Ensembl |
|
|
rs774997689 CA3916499 |
290 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA364928526 rs774997689 |
290 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs774161360 CA3916497 |
293 | I>T | No |
ClinGen ExAC |
|
|
CA364928486 rs1415465721 |
293 | I>V | No |
ClinGen gnomAD |
|
|
rs374274799 CA3916470 |
296 | T>M | Variant assessed as Somatic; 4.689e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs944783182 CA142843505 |
297 | A>T | No |
ClinGen Ensembl |
|
|
CA364927072 rs1582333478 |
298 | V>G | No |
ClinGen Ensembl |
|
|
CA3916468 COSM78395 rs745922076 |
298 | V>I | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs863224182 RCV000199506 |
300 | D>missing | No |
ClinVar dbSNP |
|
|
rs1249728981 CA364927039 |
301 | L>P | No |
ClinGen gnomAD |
|
|
rs771274749 CA3916466 |
301 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs778149048 CA3916464 |
303 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs140008593 CA3916465 |
303 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA142843458 rs1005759665 |
304 | N>S | No |
ClinGen Ensembl |
|
|
rs756609142 CA3916463 |
305 | G>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000198135 CA322626 rs781646725 |
306 | D>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs754537991 CA3916461 |
307 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA364926924 rs1388989747 |
310 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751194485 CA364926875 |
312 | T>I | No |
ClinGen TOPMed |
|
|
CA142843424 rs751194485 |
312 | T>S | No |
ClinGen TOPMed |
|
|
rs1394944199 CA364926839 |
314 | M>I | No |
ClinGen gnomAD |
|
|
CA3916460 rs199835443 VAR_085047 |
315 | R>missing | found in a patient with progressive myoclonus epilepsy and dementia; unknown pathological significance [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA3916459 rs762613731 |
315 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199835443 VAR_085047 |
315 | R>del | found in a patient with progressive myoclonus epilepsy and dementia; unknown pathological significance [UniProt] | No |
UniProt dbSNP |
|
rs1582332699 CA364926825 |
316 | S>R | No |
ClinGen Ensembl |
|
|
CA364926799 rs1372027155 |
316 | S>R | No |
ClinGen gnomAD |
|
|
CA364926795 rs1171303062 |
317 | D>N | No |
ClinGen gnomAD |
|
|
rs765044856 CA321622 RCV000197178 |
318 | G>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs750212259 CA3916458 |
318 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 320 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1417294527 CA364926729 |
321 | L>F | No |
ClinGen gnomAD |
|
|
rs761484626 CA3916457 |
321 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1279762700 CA3916454 |
322 | Y>C | No |
ClinGen TOPMed |
|
| rs773838753 | 322 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3916452 rs752717201 |
323 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364925830 rs1217456928 |
325 | R>S | No |
ClinGen gnomAD |
|
|
CA142841837 rs1054256403 |
328 | A>G | No |
ClinGen TOPMed |
|
|
rs149361191 CA3916437 |
328 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1054256403 CA142841826 |
328 | A>V | No |
ClinGen TOPMed |
|
|
CA3916435 rs766518619 |
331 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA364925695 rs927427873 COSM1082362 |
333 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs927427873 CA142841815 |
333 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3916434 rs762917520 |
333 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1238282739 CA364925676 |
334 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA364925686 rs1474884259 |
334 | M>V | No |
ClinGen gnomAD |
|
|
CA364925663 rs1582298018 |
335 | D>G | No |
ClinGen Ensembl |
|
|
rs779632748 CA142841811 |
337 | Y>C | No |
ClinGen Ensembl |
|
|
rs1582297945 CA364925630 |
337 | Y>D | No |
ClinGen Ensembl |
|
|
rs150602849 CA3916432 |
338 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1261525770 CA364925584 |
339 | F>S | No |
ClinGen gnomAD |
|
|
rs1350587154 CA364925575 |
340 | D>N | No |
ClinGen TOPMed |
|
|
CA364925555 rs1209730474 |
342 | M>K | No |
ClinGen gnomAD |
|
|
rs1271820352 CA364925548 |
343 | I>T | No |
ClinGen gnomAD |
|
|
rs980996312 CA142841805 |
344 | Y>* | No |
ClinGen TOPMed |
|
|
rs1554176945 CA364924737 |
347 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs142301833 CA3916403 |
347 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772454977 CA3916402 |
349 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1554176926 CA364924707 |
349 | G>R | No |
ClinGen Ensembl |
|
|
rs1554176898 CA364924685 |
350 | Q>K | No |
ClinGen Ensembl |
|
|
rs1169996338 CA364924660 |
351 | K>E | No |
ClinGen TOPMed |
|
|
rs1407596280 CA364924604 |
353 | H>P | No |
ClinGen TOPMed |
|
|
rs1407596280 CA364924601 |
353 | H>R | No |
ClinGen TOPMed |
|
|
CA3916400 rs138460258 |
353 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364924587 rs1432283810 |
354 | F>I | No |
ClinGen TOPMed |
|
|
rs1319393800 CA364924567 |
355 | Q>E | No |
ClinGen TOPMed |
|
|
CA3916399 rs778229961 |
358 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA364924489 rs1365454810 |
359 | Q>R | No |
ClinGen TOPMed |
|
|
CA3916398 rs757000569 |
360 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs145822668 CA3916397 |
365 | G>E | No |
ClinGen ESP ExAC |
|
|
CA364924402 rs1478670202 CA364924404 |
365 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3916395 rs756030513 |
366 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
VAR_037802 CA142841369 rs1108758 |
367 | D>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA364924346 rs1436667367 |
368 | W>* | No |
ClinGen gnomAD |
|
|
CA142841358 rs959875188 |
369 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3916394 rs138490776 |
370 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1279407865 CA364924315 |
371 | R>G | No |
ClinGen gnomAD |
|
|
rs774889294 CA3916380 |
374 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs746831967 CA3916378 |
375 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA142841203 rs775764802 |
376 | P>S | No |
ClinGen Ensembl |
|
|
CA364924146 rs1157336922 |
379 | V>I | No |
ClinGen gnomAD |
|
|
rs963223871 CA142841201 |
380 | V>I | No |
ClinGen Ensembl |
|
|
rs1773204992 RCV001245853 |
382 | G>missing | No |
ClinVar dbSNP |
|
|
CA364924104 rs1160831989 |
382 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3916377 rs777633439 |
385 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3916376 rs199728745 RCV000809462 |
386 | R>* | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1182030100 CA364924049 |
386 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 390 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1301520760 CA364923980 |
391 | T>I | No |
ClinGen gnomAD |
|
|
CA142841189 rs997236834 |
392 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 395 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs558423048 CA3916373 |
396 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3916371 rs779949030 |
400 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA323803 RCV000199270 rs863224180 |
404 | M>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3916368 rs753913206 |
404 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1453474772 CA364923742 |
407 | N>I | No |
ClinGen TOPMed |
|
|
CA320625 rs760831364 RCV000196204 |
407 | N>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA3916366 rs753129516 |
410 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 411 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364923681 rs1381912445 |
411 | I>V | No |
ClinGen TOPMed |
|
|
CA364923542 rs1449883572 |
414 | T>A | No |
ClinGen gnomAD |
|
|
rs777781045 CA3916348 |
415 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143076225 CA3916347 |
416 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA142840774 rs946822680 |
416 | E>A | No |
ClinGen TOPMed |
|
|
rs771658534 CA3916346 |
418 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3916344 rs755363278 |
419 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751904499 CA3916343 |
419 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364923383 rs1272786475 |
420 | P>S | No |
ClinGen gnomAD |
|
|
CA364923327 rs1277271486 |
422 | E>D | No |
ClinGen gnomAD |
|
|
CA364923332 rs1343094874 |
422 | E>G | No |
ClinGen gnomAD |
|
|
rs924027192 CA142840757 |
422 | E>K | No |
ClinGen Ensembl |
|
|
CA142840754 rs922879443 |
425 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs149046384 CA3916341 |
427 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364923136 rs1306841691 |
429 | L>I | No |
ClinGen gnomAD |
|
|
rs776208986 CA3916337 |
430 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171602787 CA364923105 |
430 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA364923028 rs1263316431 |
433 | I>M | No |
ClinGen Ensembl |
|
|
rs1451599537 CA364922864 |
436 | D>H | No |
ClinGen gnomAD |
|
| VAR_076278 | 436 | D>Y | found in a patient with complex IV deficiency and non-lethal infantile mitochondrial disease; unknown pathological significance [UniProt] | No | UniProt |
|
rs991448116 CA142840682 |
437 | F>V | No |
ClinGen Ensembl |
|
|
CA364922803 rs1419422047 |
438 | K>* | No |
ClinGen TOPMed |
|
|
rs763667779 CA3916316 |
438 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364922763 rs1158604420 |
439 | G>D | No |
ClinGen gnomAD |
|
|
CA3916315 rs760327372 |
440 | L>V | No |
ClinGen ExAC gnomAD |
|
| VAR_076279 | 441 | L>F | found in a patient with complex IV deficiency and non-lethal infantile mitochondrial disease; unknown pathological significance [UniProt] | No | UniProt |
|
rs1414482112 CA364922695 |
442 | L>S | No |
ClinGen gnomAD |
|
|
rs775295739 CA364922671 |
443 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364922653 rs1562055381 |
444 | D>N | No |
ClinGen Ensembl |
|
|
RCV000195702 rs144896612 CA320065 |
445 | Y>C | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
RCV000425841 rs144988947 CA3916313 |
446 | K>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1064795060 RCV000483947 |
447 | F>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 447 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210516403 CA364922550 |
448 | S>G | No |
ClinGen gnomAD |
|
|
rs1202532059 CA364922533 |
448 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3916312 rs774339242 |
449 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3916311 rs141460433 |
451 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1082361 CA3916310 rs374214191 |
451 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3916309 rs202092389 |
455 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750816674 CA142840643 |
458 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs779295415 CA3916304 |
459 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779295415 CA364922264 |
459 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364921668 rs1321073755 |
461 | V>I | No |
ClinGen gnomAD |
|
|
CA364921636 rs1457855984 |
462 | F>L | No |
ClinGen gnomAD |
|
|
rs1582264160 RCV000794571 |
463 | L>missing | No |
ClinVar dbSNP |
|
|
CA3916302 rs753312969 |
464 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364921583 rs1161514736 |
464 | Q>R | No |
ClinGen gnomAD |
|
|
CA3916301 rs200492384 |
466 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 467 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3916299 rs752396603 |
468 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs759331139 CA3916297 |
469 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466617854 CA364921452 |
470 | L>F | No |
ClinGen gnomAD |
|
|
rs187815721 CA3916295 |
471 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000374729 CA10603012 rs886041639 |
475 | E>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs773255679 CA3916273 |
476 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs759420180 RCV000807726 |
477 | F>missing | No |
ClinVar dbSNP |
|
|
CA364921195 rs1475065783 |
478 | G>R | No |
ClinGen TOPMed |
|
|
rs1408290619 CA364921168 |
479 | C>Y | No |
ClinGen gnomAD |
|
|
rs760844669 CA3916269 |
480 | G>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000504501 rs769853119 CA3916270 |
480 | G>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1478086721 CA364921017 |
486 | N>T | No |
ClinGen gnomAD |
|
|
rs1401843358 CA364920997 |
487 | T>A | No |
ClinGen TOPMed |
|
|
rs1179358687 CA364920925 |
490 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
CA142840408 rs995797727 |
493 | P>T | No |
ClinGen TOPMed |
|
|
rs776309120 RCV001212482 |
494 | Q>missing | No |
ClinVar dbSNP |
|
|
CA142840405 rs1041059224 |
494 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs200632524 CA3916262 |
498 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 499 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778346983 CA3916260 |
499 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA364920116 RCV000658050 rs754538094 |
506 | D>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1447207460 CA364920138 |
506 | D>N | No |
ClinGen TOPMed |
|
|
CA3916232 rs746493119 |
507 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757932711 CA3916231 |
508 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs757932711 CA3916230 |
508 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 513 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3916229 rs750258974 |
514 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs757088000 CA364919900 |
517 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757088000 CA3916227 |
517 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000497887 CA3916226 rs375989272 |
519 | R>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
|
rs1246137209 CA364919819 |
519 | R>M | No |
ClinGen gnomAD |
|
|
CA3916222 rs774236518 |
523 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364919732 rs774236518 |
523 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3916220 rs763044672 |
525 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs773387550 CA3916219 |
527 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1229274404 CA364919603 |
527 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs863224183 RCV000196620 |
528 | L>missing | No |
ClinVar dbSNP |
|
|
rs1295821258 CA364919596 |
528 | L>S | No |
ClinGen gnomAD |
|
|
CA3916193 rs745358559 |
530 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186766733 CA364918610 |
532 | A>V | No |
ClinGen TOPMed |
|
|
CA364918566 rs1432493348 |
535 | A>P | No |
ClinGen gnomAD |
|
|
rs1057522050 RCV000417917 CA16605096 |
539 | L>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA364918479 rs1057522050 |
539 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3916191 rs778776672 |
540 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3916190 rs770643087 |
541 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777389599 CA3916187 |
545 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA142839547 rs749229113 |
545 | P>T | No |
ClinGen gnomAD |
|
|
rs752622233 CA3916186 |
548 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439448950 CA364918252 |
550 | G>R | No |
ClinGen gnomAD |
|
|
CA3916164 rs754848910 |
551 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA364917811 rs1582218013 |
551 | A>P | No |
ClinGen Ensembl |
|
|
CA3916163 rs745972510 |
552 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA320302 rs1554168753 |
553 | L>I | No |
ClinGen Ensembl |
|
|
rs1386600545 CA364917780 |
553 | L>R | No |
ClinGen gnomAD |
|
|
rs1582217802 CA364917761 |
555 | L>F | No |
ClinGen Ensembl |
|
|
rs757299923 CA3916161 |
555 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1582217739 CA364917737 |
556 | F>L | No |
ClinGen Ensembl |
|
|
CA3916160 rs754060372 |
558 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3916157 rs767925540 |
564 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs8802 CA364917571 |
568 | K>N | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs371417663 CA142839422 |
569 | L>F | No |
ClinGen gnomAD |
|
|
rs774965955 CA3916154 |
569 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs775842870 CA142839417 |
570 | L>P | No |
ClinGen TOPMed |
|
|
rs762538003 CA3916152 |
572 | I>M | No |
ClinGen ExAC |
|
|
rs541516452 CA3916151 |
573 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA142839409 rs1049437684 |
574 | P>S | No |
ClinGen gnomAD |
|
|
rs1049437684 CA364917509 |
574 | P>T | No |
ClinGen gnomAD |
|
|
CA3916149 rs747906823 |
577 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1450117881 CA364917458 |
577 | R>S | No |
ClinGen gnomAD |
|
|
CA364917436 rs1432875613 |
578 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1562038662 CA364917453 |
578 | M>L | No |
ClinGen Ensembl |
1 associated diseases with Q5T160
[MIM: 611523]: Pontocerebellar hypoplasia 6 (PCH6)
A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition. {ECO:0000269|PubMed:17847012}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition. {ECO:0000269|PubMed:17847012}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 6.1.1.19 | Ligases forming aminoacyl-tRNA and related compounds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| arginine-tRNA ligase activity | Catalysis of the reaction: ATP + L-arginine + tRNA(Arg) = AMP + diphosphate + L-arginyl-tRNA(Arg). |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| arginyl-tRNA aminoacylation | The process of coupling arginine to arginyl-tRNA, catalyzed by arginyl-tRNA synthetase. The arginyl-tRNA synthetase is a class-I synthetase. The activated amino acid is transferred to the 2'-OH group of an alanine accetping tRNA. The 2'-O-aminoacyl-tRNA will ultimately migrate to the 3' position via transesterification. |
| 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. |
| 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. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q05506 | YDR341C | Arginine--tRNA ligase, cytoplasmic | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q0P5H7 | RARS2 | Probable arginine--tRNA ligase, mitochondrial | Bos taurus (Bovine) | PR |
| Q3U186 | Rars2 | Probable arginine--tRNA ligase, mitochondrial | Mus musculus (Mouse) | PR |
| Q9C713 | At1g66530 | Arginine--tRNA ligase, cytoplasmic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O23247 | EMB1027 | Arginine--tRNA ligase, chloroplastic/mitochondrial | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MACGFRRAIA | CQLSRVLNLP | PENLITSISA | VPISQKEEVA | DFQLSVDSLL | EKDNDHSRPD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IQVQAKRLAE | KLRCDTVVSE | ISTGQRTVNF | KINRELLTKT | VLQQVIEDGS | KYGLKSELFS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GLPQKKIVVE | FSSPNVAKKF | HVGHLRSTII | GNFIANLKEA | LGHQVIRINY | LGDWGMQFGL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LGTGFQLFGY | EEKLQSNPLQ | HLFEVYVQVN | KEAADDKSVA | KAAQEFFQRL | ELGDVQALSL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WQKFRDLSIE | EYIRVYKRLG | VYFDEYSGES | FYREKSQEVL | KLLESKGLLL | KTIKGTAVVD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LSGNGDPSSI | CTVMRSDGTS | LYATRDLAAA | IDRMDKYNFD | TMIYVTDKGQ | KKHFQQVFQM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LKIMGYDWAE | RCQHVPFGVV | QGMKTRRGDV | TFLEDVLNEI | QLRMLQNMAS | IKTTKELKNP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QETAERVGLA | ALIIQDFKGL | LLSDYKFSWD | RVFQSRGDTG | VFLQYTHARL | HSLEETFGCG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YLNDFNTACL | QEPQSVSILQ | HLLRFDEVLY | KSSQDFQPRH | IVSYLLTLSH | LAAVAHKTLQ |
| 550 | 560 | 570 | |||
| IKDSPPEVAG | ARLHLFKAVR | SVLANGMKLL | GITPVCRM |