SWISSVAR
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1 protein found in SwissVar (138 variants)

with gene/protein name P33897

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)
P33897 ABCD1_HUMAN adrenoleukodystrophy p.Cys88Trp
p.Glu90Lys
p.Ala95Asp
p.Ser98Leu
p.Ala99Asp
p.Ser103Arg
p.Arg104Cys
p.Arg104His
p.Thr105Pro
p.Thr105Ile
p.Leu107Pro
p.Ser108Leu
p.Ser108Trp
p.Arg113Pro
p.Arg113Cys
p.Gly116Arg
p.Ala141Thr
p.Pro143Ser
p.Asn148Ser
p.Ser149Asn
p.Arg152Cys
p.Arg152Leu
p.Arg152Ser
p.Arg152Pro
p.Ser161Pro
p.Arg163His
p.Arg163Pro
p.Tyr174Ser
p.Tyr174Cys
p.Tyr174Asp
p.Gln178Glu
p.Tyr181Cys
p.Arg182Pro
p.Arg189Trp
p.Leu190Pro
p.Asp194His
p.Thr198Arg
p.Thr198Lys
p.Asp200Val
p.Asp200Asn
p.Leu211Pro
p.Ser213Cys
p.Asn214Asp
p.Lys217Glu
p.Pro218Thr
p.Leu220Pro
p.Asp221Gly
p.Val224Glu
p.Leu229Pro
p.Thr254Met
p.Thr254Pro
p.Pro263Leu
p.Gly266Glu
p.Gly266Arg
p.Glu271Lys
p.Arg274Trp
p.Lys276Glu
p.Gly277Trp
p.Gly277Arg
p.Arg280Cys
p.Arg285Pro
p.Glu291Asp
p.Glu291Lys
p.Ala294Thr
p.Tyr296Cys
p.Gly298Asp
p.Glu302Lys
p.Gln316Pro
p.Leu322Pro
p.Lys336Met
p.Trp339Arg
p.Ser342Pro
p.Gly343Asp
p.Gly343Ser
p.Arg389Gly
p.Arg389His
p.Arg401Gln
p.Arg401Trp
p.Arg418Trp
p.Pro484Arg
p.Leu503Pro
p.Gly507Val
p.Gly512Ser
p.Ser514Arg
p.Ser515Phe
p.Leu516Pro
p.Arg518Gln
p.Arg518Trp
p.Gly522Trp
p.Leu523Phe
p.Gly529Ser
p.Pro534Leu
p.Phe540Ser
p.Phe540Cys
p.Pro543Leu
p.Gln544Arg
p.Ser552Pro
p.Arg554His
p.Gln556Arg
p.Pro560Arg
p.Pro560Leu
p.Pro560Ser
p.Met566Lys
p.Arg591Gln
p.Arg591Trp
p.Arg591Pro
p.Ser606Pro
p.Ser606Leu
p.Gly608Asp
p.Glu609Lys
p.Glu609Gly
p.Ala616Val
p.Arg617His
p.Arg617Cys
p.Arg617Gly
p.Ala626Thr
p.Ala626Asp
p.Asp629His
p.Glu630Gly
p.Cys631Tyr
p.Thr632Pro
p.Thr632Ile
p.Ser633Ile
p.Ser633Arg
p.Val635Met
p.Ser636Ile
p.Asp638Tyr
p.Glu640Lys
p.Ala646Pro
p.Leu654Pro
p.Arg660Gln
p.Arg660Pro
p.Arg660Trp
p.His667Asp
p.Thr668Ile
p.Gly677Asp
p.Trp679Arg
p.Thr693Met










































































































































P33897 ABCD1_HUMAN chromosome xq28 deletion syndrome