Tyrosyl-tRNA Synthetase 2

Alternative Names

YARS2
Tyrosyl-tRNA Synthetase, Mitochondrial;
MT-TYRRS

Length

30,871 bases

No. of Exons

No. of isoforms

Protein Name

Tyrosine--tRNA ligase, mitochondrial

Molecular Mass

53199 Da

Amino Acid Count

477

Genomic Location

chr12:32,725,091-32,755,961

Gene Map Locus

12p11.21

Description

This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001040436.3:c.137G>A	Lebanon	chr12:32755738	Pathogenic	Pathogenic	Myopathy, Lactoc Acidosis, and Sideroblastic Anemia 2	NG_028122.1:g.5216G>A; NM_001040436.3:c.137G>A; NP_001035526.1:p.Gly46Asp	587777213	102433
NM_001040436.3:c.156C>G	Lebanon	NC_000012.12:g.32755719G>C	Likely Pathogenic, Pathogenic	Pathogenic	Myopathy, Lactoc Acidosis, and Sideroblastic Anemia 2	NG_028122.1:g.5235C>G; NM_001040436.3:c.156C>G; NP_001035526.1:p.Phe52Leu	267607180	1056

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External Links

https://ghr.nlm.nih.gov/gene/YARS2 https://www.genecards.org/cgi-bin/carddisp.pl?YARS2 https://www.ncbi.nlm.nih.gov/gene/51067

Contributors

Pratibha Nair: 28.09.2020
Pratibha Nair: 30.03.2020

Edit History

Pratibha Nair: 26.04.2021
Pratibha Nair: 28.09.2020
Pratibha Nair: 30.03.2020

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