SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name O15146

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
O15146 MUSK_HUMAN myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency p.Asp38Glu
p.Pro344Arg
p.Met605Ile
p.Ala727Val
p.Val790Met
p.Met835Val






O15146 MUSK_HUMAN fetal akinesia deformation sequence p.Ile575Thr