Relationship to CMT

CMT2dHMN/HMN AD 2 subtypes 16q22.1

First described 2009 ARS gene

Subtypes2

Subtype	Inheritance	Class	OMIM	Sentinel Publication
SubtypeCMT2N	Inheritanceautosomal dominant	ClassCMT2	OMIM613287	Sentinel Publication A Major Determinant for Binding and Aminoacylation of tRNA(Ala) in Cytoplasmic Alanyl-tRNA Synthetase is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease 2009 · 10.1016/j.ajhg.2009.12.005
SubtypedHMN-AARS1	Inheritanceautosomal dominant	ClassdHMN/HMN	OMIMn/a	Sentinel Publication Alanyl-tRNA Synthetase Mutation in a Family with Dominant Distal Hereditary Motor Neuropathy 2012 · 10.1212/WNL.0b013e3182574f8f

ClinVar Variants

Pathogenic and likely pathogenic variants in AARS1, as classified in ClinVar, are read live from NCBI.

Reported in CMT

Reported in Other Diseases

Reported in a disease other than CMT. Listed apart rather than counted as CMT variants.

Variants w/o a Recorded Disease

Pathogenic or likely pathogenic in ClinVar, submitted without a disease recorded.

What the review stars mean

Review stars are ClinVar’s measure of how well a classification is supported: four for a practice guideline, three for an expert panel review, two for agreement among multiple submitters, and one for a single submitter with criteria provided. A record with no criteria provided earns no stars and is not indexed.

Only aggregate germline records are indexed. Uncertain and conflicting classifications are not. Experts in CMT makes no claim to the accuracy of ClinVar data. This index is provided for informational purposes only.

View all AARS1 ClinVar Records

Gene Function

AARS1 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. In presence of high levels of lactate, also acts as a protein lactyltransferase that mediates lactylation of lysine residues in target proteins, such as TEAD1, TP53/p53 and YAP1. Protein lactylation takes place in a two-step reaction: lactate is first activated by ATP to form lactate-AMP and then transferred to lysine residues of target proteins. Acts as an inhibitor of TP53/p53 activity by catalyzing lactylation of TP53/p53. Acts as a positive regulator of the Hippo pathway by mediating lactylation of TEAD1 and YAP1 Source: UniProt

Indexed Identifiers

HGNC Aliases: AARS, AlaRS

hgnc_idHGNC:20

ensembl_gene_idENSG00000090861

coords_grch38chr16:70251983-70289707

coords_grch37chr16:70286198-70323446

entrez_id16

omim_gene601065

uniprot_idsP49588

refseq_accessionNM_001605

mane_refseqNM_001605.3

mane_ensemblENST00000261772.13

External recordsHGNC:20OMIM 601065gnomADUniProt P49588ClinGenClinVar P/LPOrphanetMANE NM_001605.3GENESIS discovery

EvidenceClinGen Definitive Charcot-Marie-Tooth disease axonal type 2NPanelApp Green

The Dorsal Root

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