SWISSVAR
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1 protein found in SwissVar (13 variants)

with gene/protein name P48029

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)
P48029 SC6A8_HUMAN cerebral creatine deficiency syndrome 1 p.Tyr80His
p.Gly87Arg
p.Gly132Val
p.Cys337Trp
p.Gly381Arg
p.Gly383Cys
p.Pro390Leu
p.Arg391Trp
p.Ala448Asp
p.Cys491Trp
p.Val539Ile
p.Val552Leu
p.Pro554Leu