SWISSVAR
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1 protein found in SwissVar (134 variants)

with gene/protein name P07902

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)
P07902 GALT_HUMAN galactosemia p.Gln9His
p.Thr23Ala
p.Asp28Tyr
p.Asp28His
p.Ile32Asn
p.Arg33His
p.Arg33Pro
p.Tyr34Asn
p.Gln38Pro
p.Val44Leu
p.Val44Met
p.Ser45Leu
p.Arg51Leu
p.Arg51Gln
p.Gly55Cys
p.Arg67Cys
p.Leu74Pro
p.Ala81Thr
p.Gly83Val
p.Tyr89His
p.Asn97Ser
p.Asp98Asn
p.Gln103Arg
p.Ser112Arg
p.Asp113Asn
p.His114Leu
p.Phe117Ser
p.Gln118His
p.Arg123Gln
p.Arg123Gly
p.Val125Ala
p.Lys127Glu
p.Met129Thr
p.Cys130Tyr
p.His132Tyr
p.His132Gln
p.Ser135Leu
p.Ser135Trp
p.Thr138Met
p.Leu139Pro
p.Met142Thr
p.Met142Val
p.Met142Lys
p.Ser143Leu
p.Arg148Gln
p.Arg148Gly
p.Arg148Trp
p.Val150Leu
p.Val151Ala
p.Trp154Gly
p.Pro166Ala
p.Trp167Arg
p.Val168Leu
p.Ile170Thr
p.Phe171Ser
p.Gly175Asp
p.Gly179Asp
p.Ser181Ala
p.Ser181Phe
p.Pro183Thr
p.His184Gln
p.Pro185Leu
p.Pro185His
p.Pro185Ser
p.Gln188Arg
p.Ser192Asn
p.Ser192Gly
p.Phe194Leu
p.Leu195Pro
p.Ile198Met
p.Ile198Thr
p.Ala199Thr
p.Arg201His
p.Arg201Cys
p.Glu203Lys
p.Arg204Pro
p.Tyr209Cys
p.Tyr209Ser
p.Gln212His
p.Leu217Pro
p.Glu220Lys
p.Arg223Ser
p.Leu226Pro
p.Leu227Pro
p.Lys229Asn
p.Arg231Cys
p.Arg231His
p.Pro244Ser
p.Trp249Arg
p.Tyr251Ser
p.Tyr251Cys
p.Gln252His
p.Arg258Cys
p.Arg259Trp
p.Arg259Gln
p.Arg262Pro
p.Pro265Ala
p.Leu267Val
p.Leu267Arg
p.Glu271Asp
p.Arg272Gly
p.Ile278Asn
p.Leu282Val
p.Lys285Asn
p.Lys285Arg
p.Leu289Arg
p.Leu289Phe
p.Glu291Val
p.Glu291Lys
p.Phe294Tyr
p.Glu308Lys
p.Asn314Asp
p.Gln317Arg
p.Gln317His
p.His319Gln
p.Ala320Thr
p.Tyr323His
p.Tyr323Asp
p.Pro324Ser
p.Pro325Leu
p.Leu327Pro
p.Arg328His
p.Ser329Phe
p.Ala330Val
p.Arg333Gly
p.Arg333Trp
p.Arg333Leu
p.Arg333Gln
p.Lys334Arg
p.Met336Leu
p.Leu342Ile
p.Gln344Lys
p.Ala345Asp
p.Thr350Ala