SARS1

Chr 1AR

seryl-tRNA synthetase 1

Also known as: NEDMAS, SARS, SERRS, SERS

NCBI Gene: 6301 ENSG00000031698 UniProt: P49591 OMIM: 607529

The encoded enzyme catalyzes the transfer of L-serine to tRNA(Ser), a critical step in protein synthesis. Biallelic mutations cause neurodevelopmental disorder with microcephaly, ataxia, and seizures, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variation in the general population.

OMIM ResearchSummary from RefSeq, OMIM

This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with microcephaly, ataxia, and seizuresMIM #617709

Clinical highlights

Gene-disease validity (ClinGen)

neurodevelopmental disorder with microcephaly, ataxia, and seizures · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.21

LOEUF· LoF intol.

Mechanism· G2P