MUSK

Chr 9

muscle associated receptor tyrosine kinase

Also known as: CMS9, FADS

NCBI Gene: 4593ENSG00000030304UniProt: O15146

This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMyasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
UniProtFetal akinesia deformation sequence 1

Clinical highlights

Gene-disease validity (ClinGen)
congenital myasthenic syndrome 9 · ARDefinitivesufficient evidence for diagnostic panels
1
Active trials
326
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.70
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — MUSK
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.70LOEUF
pLI 0.000
Z-score 3.07
OE 0.48 (0.33–0.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.09Z-score
OE missense 0.86 (0.79–0.93)
409 obs / 476.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.48 (0.33–0.70)
0≤0.351.4
Missense OE?0.86 (0.79–0.93)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 19 / 39.9Missense obs/exp: 409 / 476.0Syn Z: 0.71

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MUSK · 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