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1 protein found in SwissVar (95 variants)

with gene/protein name P49768

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)
P49768 PSN1_HUMAN alzheimer disease 3 p.Arg35Gln
p.Ala79Val
p.Val82Leu
p.Ile83Thr
p.Cys92Ser
p.Val96Phe
p.Phe105Leu
p.Tyr115His
p.Tyr115Cys
p.Thr116Asn
p.Pro117Leu
p.Glu120Lys
p.Glu120Asp
p.Leu134Arg
p.Asn135Asp
p.Met139Thr
p.Met139Val
p.Met139Ile
p.Met139Lys
p.Ile143Thr
p.Ile143Phe
p.Met146Val
p.Met146Ile
p.Met146Leu
p.Thr147Ile
p.His163Arg
p.His163Tyr
p.Trp165Cys
p.Leu166Pro
p.Ser169Leu
p.Ser169Pro
p.Leu171Pro
p.Leu173Trp
p.Leu174Met
p.Phe177Ser
p.Phe177Leu
p.Ser178Pro
p.Gly206Ser
p.Gly206Ala
p.Gly209Glu
p.Gly209Arg
p.Gly209Val
p.Ile213Thr
p.Ile213Leu
p.Leu219Pro
p.Gln222Arg
p.Ala231Thr
p.Ala231Val
p.Met233Leu
p.Met233Thr
p.Leu235Pro
p.Ala246Glu
p.Leu250Ser
p.Ala260Val
p.Val261Phe
p.Leu262Phe
p.Leu262Val
p.Cys263Arg
p.Pro264Leu
p.Gly266Ser
p.Pro267Ser
p.Pro267Thr
p.Arg269Gly
p.Arg269His
p.Leu271Val
p.Thr274Arg
p.Arg278Thr
p.Glu280Gly
p.Glu280Ala
p.Leu282Arg
p.Ala285Val
p.Leu286Val
p.Ser289Cys
p.Thr354Ile
p.Arg358Gln
p.Ser365Tyr
p.Gly378Glu
p.Gly384Ala
p.Ser390Ile
p.Leu392Val
p.Gly394Val
p.Ala396Thr
p.Asn405Ser
p.Ile408Thr
p.Ala409Thr
p.Cys410Tyr
p.Leu418Phe
p.Ala426Pro
p.Ala431Glu
p.Leu435Phe
p.Pro436Ser
p.Pro436Gln
p.Ile439Val





























































































P49768 PSN1_HUMAN frontotemporal dementia p.Leu113Pro

P49768 PSN1_HUMAN cardiomyopathy, dilated 1u p.Asp333Gly

P49768 PSN1_HUMAN acne inversa, familial, 3