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|
|O15269||SPTC1_HUMAN||neuropathy, hereditary sensory and autonomic, 1a||p.Cys133Tyr |
|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|