SWISSVAR

1 protein found in SwissVar (102 variants)

with gene/protein name P30613

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)
P30613 KPYR_HUMAN p.Val506Ile

P30613 KPYR_HUMAN pyruvate kinase hyperactivity p.Gly37Glu

P30613 KPYR_HUMAN pyruvate kinase deficiency of red cells p.Arg40Trp
p.Leu73Pro
p.Ser80Pro
p.Arg86Pro
p.Ile90Asn
p.Gly95Arg
p.Met107Thr
p.Gly111Arg
p.Ala115Pro
p.Ser120Phe
p.Ser130Tyr
p.Val134Asp
p.Ile153Thr
p.Ala154Thr
p.Leu155Pro
p.Gly159Val
p.Arg163Cys
p.Arg163Leu
p.Gly165Val
p.Glu172Gln
p.Ile219Thr
p.Gly222Ala
p.Gly263Trp
p.Gly263Arg
p.Leu272Val
p.Gly275Arg
p.Asp281Asn
p.Phe287Val
p.Val288Leu
p.Asp293Asn
p.Ala295Val
p.Ile310Asn
p.Ile314Thr
p.Glu315Lys
p.Val320Leu
p.Asp331Asn
p.Asp331Glu
p.Gly332Ser
p.Val335Met
p.Ala336Ser
p.Arg337Gln
p.Arg337Pro
p.Asp339His
p.Gly341Asp
p.Gly341Ala
p.Ile342Phe
p.Lys348Asn
p.Ala352Asp
p.Ile357Thr
p.Gly358Glu
p.Arg359His
p.Arg359Cys
p.Asn361Asp
p.Gly364Asp
p.Val368Phe
p.Leu374Pro
p.Ser376Ile
p.Thr384Met
p.Arg385Trp
p.Glu387Gly
p.Asp390Asn
p.Ala392Thr
p.Asn393Ser
p.Asn393Lys
p.Ala394Asp
p.Ala394Val
p.Thr408Ile
p.Thr408Ala
p.Gln421Lys
p.Arg426Gln
p.Arg426Trp
p.Glu427Asp
p.Glu427Ala
p.Ala431Thr
p.Gly458Asp
p.Ala459Val
p.Val460Met
p.Ala468Gly
p.Ala468Val
p.Thr477Ala
p.Arg479His
p.Ser485Phe
p.Arg486Trp
p.Arg488Gln
p.Arg490Trp
p.Ala495Val
p.Ala495Thr
p.Arg498His
p.Arg498Cys
p.Arg504Leu
p.Arg510Gln
p.Gly511Arg
p.Arg531Cys
p.Arg532Gln
p.Arg532Trp
p.Val552Met
p.Gly557Ala
p.Arg559Gly
p.Asn566Lys
p.Arg569Gln