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)
Triplosensitivity:
Not Yet Evaluated
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)