SWISSVAR
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1 protein found in SwissVar (33 variants)

with gene/protein name Q01453

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)
Q01453 PMP22_HUMAN charcot-marie-tooth disease 1a p.Leu16Pro
p.Ser22Phe
p.Asp37Val
p.Val65Phe
p.Ser72Leu
p.Ser79Cys
p.Gly93Arg
p.Leu105Arg
p.Gly107Val
p.Thr118Met
p.Leu147Arg











Q01453 PMP22_HUMAN dejerine-sottas syndrome p.His12Gln
p.Leu16Pro
p.Leu19Pro
p.Met69Lys
p.Leu71Pro
p.Ser72Pro
p.Ser72Trp
p.Ser72Leu
p.Ser76Ile
p.Ser79Pro
p.Leu80Arg
p.Leu80Pro
p.Gly100Glu
p.Gly100Arg
p.Leu105Arg
p.Cys109Arg
p.Ser149Arg
p.Gly150Asp
p.Gly150Cys
p.Arg157Trp




















Q01453 PMP22_HUMAN hereditary neuropathy with liability to pressure palsies p.Ser22Phe
p.Val30Met
p.Ala67Thr



Q01453 PMP22_HUMAN charcot-marie-tooth disease 1e p.Thr23Arg
p.Trp28Arg
p.Ala67Pro



Q01453 PMP22_HUMAN inflammatory demyelinating polyneuropathy