SWISSVAR
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1 protein found in SwissVar (23 variants)

with gene/protein name P50897

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)
P50897 PPT1_HUMAN ceroid lipofuscinosis, neuronal, 1 p.Trp38Cys
p.His39Gln
p.Gly42Glu
p.Cys45Tyr
p.Thr75Pro
p.Asp79Gly
p.Gly108Arg
p.Tyr109Asp
p.Arg122Trp
p.Ser138Leu
p.Cys152Tyr
p.Gln177Glu
p.Val181Leu
p.Val181Met
p.His187Arg
p.Pro189Arg
p.Leu219Gln
p.Leu222Pro
p.Val228Gly
p.Tyr247His
p.Gly250Val
p.Trp296Arg
p.Leu305Pro
3GROB (38)
3GROA (39)
3GROA (42)

3GROB (75)
3GROB (79)
3GROA (108)
3GROA (109)
3GROB (122)


3GROA (177)
3GROA (181)
3GROA (181)


3GROB (219)


3GROB (247)
3GROB (250)