SWISSVAR
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1 protein found in SwissVar (55 variants)

with gene/protein name P20807

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)
P20807 CAN3_HUMAN muscular dystrophy, limb-girdle, autosomal recessive 1 p.Val4Ile
p.Pro26Leu
p.Asp77Asn
p.Ser86Phe
p.Arg118Gly
p.Cys137Arg
p.Ile162Leu
p.Leu182Gln
p.Pro183Leu
p.Thr184Met
p.Leu189Pro
p.Gly214Ser
p.Ser215Pro
p.Glu217Lys
p.Gly222Arg
p.Glu226Lys
p.Thr232Ile
p.Gly234Glu
p.Pro319Leu
p.His334Gln
p.Tyr336Asn
p.Val354Gly
p.Trp360Cys
p.Arg437Cys
p.Arg440Trp
p.Gly441Asp
p.Gly445Arg
p.Arg448His
p.Arg448Cys
p.Arg448Gly
p.Ser479Gly
p.Gln486Glu
p.Arg489Trp
p.Arg489Gln
p.Arg490Trp
p.Arg490Gln
p.Arg493Trp
p.Gly496Arg
p.Ile502Thr
p.Arg541Gln
p.Gly567Trp
p.Arg572Trp
p.Arg572Gln
p.Ser606Leu
p.Gln638Pro
p.Arg698Pro
p.Ala702Val
p.Asp705His
p.Asp705Gly
p.Phe731Ser
p.Ser744Gly
p.Arg748Gln
p.Arg769Gln
p.His774Asp
p.Ala798Glu























































P20807 CAN3_HUMAN muscular dystrophy, limb-girdle, autosomal dominant 4