SWISSVAR
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1 protein found in SwissVar (33 variants)

with gene/protein name P17661

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)
P17661 DESM_HUMAN myopathy, myofibrillar, 1 p.Ser2Ile
p.Ser7Phe
p.Ser13Phe
p.Arg16Cys
p.Ser46Tyr
p.Ser46Phe
p.Asn116Ser
p.Glu245Asp
p.Ala337Pro
p.Leu338Arg
p.Asn342Asp
p.Leu345Pro
p.Arg350Pro
p.Arg355Pro
p.Ala357Pro
p.Ala360Pro
p.Leu370Pro
p.Leu385Pro
p.Gln389Pro
p.Asn393Ile
p.Asp399Tyr
p.Glu401Lys
p.Arg406Trp
p.Pro419Ser
p.Thr442Ile
p.Lys449Thr
p.Lys449Met
p.Ile451Met
p.Thr453Ile
p.Arg454Trp
p.Ser460Ile































P17661 DESM_HUMAN cardiomyopathy, dilated 1i p.Ala120Asp
p.Leu136Pro
p.Ile451Met



P17661 DESM_HUMAN neurogenic scapuloperoneal syndrome kaeser type p.Arg350Pro