Phenylalanyl-tRNA Synthetase 2, Mitochondrial

Alternative Names

FARS2
FARS1
Mitochondrial Phers

Length

510,577 bases

No. of Exons

No. of isoforms

Protein Name

Phenylalanine--tRNA ligase, mitochondrial

Molecular Mass

52357 Da

Amino Acid Count

451

Genomic Location

chr6:5,261,006-5,771,582

Gene Map Locus

6p25.1

Description

This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [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_001318872.2:c.431A>G	Lebanon; Saudi Arabia	chr6:5369001	Likely Pathogenic, Pathogenic	Pathogenic	Combined Oxidative Phosphorylation Deficiency 14	NG_033003.2:g.112651A>G; NM_001318872.2:c.431A>G; NP_001305801.1:p.Tyr144Cys	397514610	39824
NM_001318872.2:c.589G>A	Lebanon	NC_000006.12:g.5369159G>A	Uncertain Significance	Uncertain Significance	Combined Oxidative Phosphorylation Deficiency 14	NG_033003.1:g.112809G>A; NM_001318872.2:c.589G>A; NP_001305801.1:p.Val197Met	149605576	1517423

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=FARS2 https://www.ncbi.nlm.nih.gov/gene/10667

Contributors

Pratibha Nair: 15.12.2020

Edit History

Pratibha Nair: 15.12.2020

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