Developmental Brain Disorder Gene Database

Missense Gene

Gene

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Missense

KARS1

HGNC:6215 (protein-coding gene)

lysyl-tRNA synthetase 1

Unique Cases:: 5

Disorders:: ID, EP

Last Updated:: November 4, 2024

Gene Summary:

Gene Function: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA (PubMed:18029264, PubMed:18272479, PubMed:9278442). When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages (PubMed:15851690). Catalyzes the synthesis of the signaling molecule diadenosine tetraphosphate (Ap4A), and thereby media... (Source: Uniprot)

Previous symbols: DFNB89, KARS

Alias symbols: KARS2

Chromosomal Location: 16q23.1

Genomic Coordinates: GRCh37:chr16:75661622-75681585; GRCh38:chr16:75627724-75647665

Associated Disorders: Intellectual Disability, Epilepsy

Predictive Scores:

HI Score (Decipher): Not Scored

pLI (gnomAD): 0.00

LOEUF (gnomAD): 0.98

Classifications from External Sources:

SFARI Score (SFARI): Not Scored

DDG2P Classification (DDG2P): Strong

ClinGen Classification (ClinGen): Limited1

GenCC Classification (GenCC): Supportive2 Strong3 Limited3

Cases:

Publications:

Boonsawat P et. al., Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly., Genet Med, 2019

Itoh M et. al., Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy., Brain, 2019

External References:

NCBI: Gene

Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.

NCBI: Gene

Gene Reviews

An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.

Gene Reviews

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.

DECIPHER

SFARI

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.

SFARI

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

ClinGen

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.

GenCC

gnomAD

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.