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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)