AARS2
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
AARS2 (HGNC:21022) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
alanyl-tRNA synthetase 2, mitochondrial
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
AARSL
Alias symbols
KIAA1270, bA444E17.1
%HI
53.33(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.75(Read more about gnomAD LOEUF score)
Cytoband
6p21.1
Genomic Coordinates
GRCh37/hg19: chr6:44266468-44281084 NCBI Ensembl UCSC
GRCh38/hg38: chr6:44298731-44313347 NCBI Ensembl UCSC
MANE Select Transcript
NM_020745.4 ENST00000244571.5 (Read more about MANE Select)
Function
Catalyzes the attachment of alanine to tRNA(Ala) in a two- step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain. {ECO:0000255|HAMAP-Rule:MF_03133}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-25754
ClinGen Curation ID:
CCID:006594
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • leukoencephalopathy, progressive, with ovarian failure Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)