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1 protein found in SwissVar (112 variants)

with gene/protein name P17405

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)
P17405 ASM_HUMAN niemann-pick disease a p.Leu103Pro
p.Pro184Leu
p.Trp209Arg
p.Leu214Arg
p.Cys226Arg
p.Arg228His
p.Arg228Cys
p.Ala241Val
p.Gly245Ser
p.Gly245Asp
p.Glu246Lys
p.Ser248Arg
p.Asp251His
p.Asp251Glu
p.Pro253Ser
p.Asp278Ala
p.Gln292Lys
p.Leu302Pro
p.Tyr313His
p.Gly317Arg
p.His319Tyr
p.Thr322Pro
p.Leu341Arg
p.Leu341Pro
p.Leu361Arg
p.Tyr367Cys
p.Met382Ile
p.Cys385Arg
p.Asn389His
p.Asn389Thr
p.Trp391Arg
p.His421Arg
p.Gly424Ser
p.Tyr446Cys
p.Leu450Pro
p.Phe463Ser
p.Tyr467Ser
p.Pro475Leu
p.Ala482Glu
p.Asn492Ile
p.Arg496His
p.Arg496Leu
p.Tyr517Cys
p.Trp533Arg
p.Tyr537His
p.Phe570Leu
p.Gly577Ser
p.Arg600His
















































P17405 ASM_HUMAN niemann-pick disease b p.Asp49Val
p.Cys89His
p.Cys92Trp
p.Leu103Pro
p.Val130Ala
p.Leu137Pro
p.Cys157Arg
p.Leu161Pro
p.Gly166Arg
p.Ile176Asn
p.Ala196Pro
p.Arg200Cys
p.Leu225Pro
p.Leu225Met
p.Arg228Cys
p.Gly232Asp
p.Gly242Arg
p.Trp244Cys
p.Gly245Ser
p.Glu246Gln
p.Ser248Arg
p.Thr256Ile
p.Pro280Phe
p.Ala281Thr
p.Arg289His
p.Val312Met
p.Asn318Asp
p.Pro323Ala
p.Pro330Arg
p.Ala357Asp
p.Pro371Ser
p.Arg376His
p.Arg376Leu
p.Ser379Pro
p.Met382Ile
p.Asn383Ser
p.Trp391Gly
p.Ala413Val
p.His421Tyr
p.His425Arg
p.Cys431Arg
p.Leu432Pro
p.Trp435Cys
p.Ser436Arg
p.Ala451Asp
p.Ala452Val
p.Gly456Asp
p.Arg474Gln
p.Arg474Trp
p.Pro475Leu
p.Phe480Leu
p.Thr486Ala
p.Tyr488Asn
p.Gly490Ser
p.Gly494Ser
p.Arg496Cys
p.His514Gln
p.Glu515Val
p.Ile518Leu
p.Asn520Ser
p.Gln523His
p.Trp533Arg
p.Asn547Lys
p.Leu549Pro
p.Asp563Tyr
p.His575Asp
p.Lys576Asn
p.Gln596Arg
p.Leu597Phe
p.Arg600His
p.Arg600Pro
p.Arg608Cys