SWISSVAR
Home  |  Contact

1 protein found in SwissVar (6 variants)

with gene/protein name O15269

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)
O15269 SPTC1_HUMAN neuropathy, hereditary sensory and autonomic, 1a p.Cys133Tyr
p.Cys133Trp
p.Val144Asp
p.Ala310Gly
p.Ser331Phe
p.Ala352Val






O15269 SPTC1_HUMAN severe hereditary motor and sensory neuropathy forms, whose core features are severe, diffuse muscle wasting and hypotonia, motor and sensory disturbances, foot ulcers, amputations and/or burns, joint hypermobility, cataracts and considerable growth retardation