SWISSVAR

1 protein found in SwissVar (43 variants)

with gene/protein name P35557

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)
P35557 HXK4_HUMAN maturity-onset diabetes of the young 2 p.Arg36Trp
p.Ala53Ser
p.Glu70Lys
p.Gly80Ala
p.Gly80Ser
p.Tyr108His
p.Ile110Thr
p.Ala119Asp
p.Ser131Pro
p.His137Arg
p.Phe150Ser
p.Leu164Pro
p.Thr168Pro
p.Gly175Arg
p.Val182Met
p.Ala188Thr
p.Val203Ala
p.Thr209Met
p.Met210Thr
p.Met210Lys
p.Cys213Arg
p.Glu221Lys
p.Val226Met
p.Gly227Cys
p.Thr228Met
p.Glu256Lys
p.Trp257Arg
p.Ala259Thr
p.Gly261Arg
p.Gly261Glu
p.Glu279Gln
p.Gly299Arg
p.Glu300Gln
p.Glu300Lys
p.Leu309Pro
p.Ser336Leu
p.Val367Met
p.Cys382Tyr
p.Ala384Thr
p.Gly385Val
p.Arg392Cys
p.Lys414Glu










































P35557 HXK4_HUMAN familial hyperinsulinemic hypoglycemia 3 p.Val455Met