MARS1

Chr 12ARAD

methionyl-tRNA synthetase 1

Also known as: CMT2U, ILFS2, ILLD, MARS, METRS, MRS, MTRNS, SPG70

NCBI Gene: 4141ENSG00000166986UniProt: P56192OMIM: 156560

This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Trichothiodystrophy 9, nonphotosensitiveMIM #619692
AR
Charcot-Marie-Tooth disease, axonal, type 2UMIM #616280
AD
Interstitial lung and liver diseaseMIM #615486
AR
Spastic paraplegia 70, autosomal recessiveMIM #620323
AR

Clinical highlights

Gene-disease validity (ClinGen)
Charcot-Marie-Tooth disease · ADLimitednot for standalone diagnostic reporting
1
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.78
LOEUF
GOF
Mechanism· predicted
📖
GeneReview available — MARS1
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.78LOEUF
pLI 0.000
Z-score 2.91
OE 0.58 (0.44–0.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.14Z-score
OE missense 0.86 (0.79–0.93)
437 obs / 509.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.44–0.78)
0≤0.351.4
Missense OE?0.86 (0.79–0.93)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 33 / 56.6Missense obs/exp: 437 / 509.3Syn Z: 0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MARS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients