Arginyl-tRNA Synthetase 1

Alternative Names

RARS1
RARS
Arginyl-tRNA Synthetase, Cytoplasmic

Length

32,831 bases

No. of Exons

No. of isoforms

Protein Name

Arginine--tRNA ligase, cytoplasmic

Molecular Mass

75379 Da

Amino Acid Count

660

Genomic Location

chr5:168,486,470-168,519,300

Gene Map Locus

5q34

Description

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_002887.3:c.1316C>A	United Arab Emirates	NC_000005.10:g.168506801C>A	Likely Pathogenic	Likely Pathogenic	Leukodystrophy, Hypomyelinating, 9	NG_041809.1:g.25344C>A; NM_002887.3:c.1316C>A; NP_002878.2:p.Ala439Asp	779915495	977922
NM_002887.4:c.104T>G	Saudi Arabia	NC_000005.10:g.168488660T>G	Likely Pathogenic	Pathogenic	Leukodystrophy, Hypomyelinating, 9	NG_041809.1:g.7203T>G; NM_002887.4:c.104T>G; NP_002878.2:p.Leu35Ter	776864941	1324992

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=rars1

Edit History

Pratibha Nair: 12.04.2021

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