AARS1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
AARS1 (HGNC:20) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
alanyl-tRNA synthetase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
AARS
Alias symbols
CMT2N, AlaRS
%HI
24.74(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.77(Read more about gnomAD LOEUF score)
Cytoband
16q22.1
Genomic Coordinates
GRCh37/hg19: chr16:70286201-70323409 NCBI Ensembl UCSC
GRCh38/hg38: chr16:70252298-70289506 NCBI Ensembl UCSC
MANE Select Transcript
NM_001605.3 ENST00000261772.13 (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) (PubMed:27622773, PubMed:27911835, PubMed:28493438, PubMed:33909043). Also edits incorrectly charged tRNA(Ala) via its editing domain (PubMed:27622773, PubMed:27911835, PubMed:28493438). {ECO:0000255|HAMAP-Rule:MF_03133, ECO:0000269|PubMed:27622773, ECO:0000269|PubMed:27911835, ECO:0000269|PubMed:28493438, ECO:0000269|Pu... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30129
ClinGen Curation ID:
CCID:006593
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
01/11/2018

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Missense variants in the AARS gene are associated with autosomal dominant CMT2N. In addition, Simons et al., 2015 (PMID 25817015) report two missense variants associated with autosomal recessive epileptic encephalopathy. Other types of variants have not been reported in the AARS gene. Functional studies of AARS missense variants, as well as missense variants in other related tRNA synthetases (summarized in PMID 27352040), have not established haploinsufficiency as a disease mechanism.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)