SWISSVAR
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1 protein found in SwissVar (45 variants)

with gene/protein name P54803

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)
P54803 GALC_HUMAN leukodystrophy, globoid cell p.Gly41Ser
p.Gly59Arg
p.Ser68Phe
p.Arg79His
p.Ile82Met
p.Gly111Asp
p.Gly111Ser
p.Thr112Ala
p.Met117Leu
p.Glu130Lys
p.Asp187Val
p.Gly194Ala
p.Ile250Thr
p.Ala263Thr
p.Thr278Ile
p.Gly284Ser
p.Gly286Asp
p.Asn295Thr
p.Ser303Phe
p.Tyr314Cys
p.Pro318Arg
p.Pro318Ala
p.Gly323Arg
p.Tyr335Cys
p.Ile384Thr
p.Arg396Leu
p.Arg396Trp
p.Pro400Leu
p.Trp426Gly
p.Thr468Ser
p.Tyr490Asn
p.Phe514Ser
p.Thr529Met
p.Arg531Cys
p.Arg531His
p.Asp544Asn
p.Gly553Arg
p.Val566Gly
p.Tyr567Ser
p.Ala592Ser
p.Ile599Ser
p.Leu634Ser
p.Leu645Arg
p.Thr668Arg
p.Val681Met