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Results for the Protein: P55017
313104194

S12A3_HUMAN RecName: Full=Solute carrier family 12 member 3; AltName: Full=Na-Cl cotransporter; Short=NCC; AltName: Full=Na-Cl symporter; AltName: Full=Thiazide-sensitive sodium-chloride cotransporter

Known Diseases associated with this Protein:
  GITELMAN SYNDROME (GS)
75
5
0
0
80
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AA_permease_N - pfam08403
PotE - COG0531
AA_permease - pfam00324


Swiss-Prot Protein: P55017
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AA_permeasepfam003242.6e-172141647
AA_permease_Npfam084031.7e-3044120

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_039512Diseasep.ALA569GLUGitelman syndrome (GS)
Swiss-ProtVAR_039494Polymorphismp.ALA264GLYN/A
Swiss-ProtVAR_039491Diseasep.ALA226THRGitelman syndrome (GS)
Swiss-ProtVAR_039507Diseasep.ALA464THRGitelman syndrome (GS)
Swiss-ProtVAR_007123Polymorphismp.ALA728THRN/A
Swiss-ProtVAR_039498Diseasep.ALA313VALGitelman syndrome (GS)
Swiss-ProtVAR_039513Diseasep.ALA569VALGitelman syndrome (GS)
Swiss-ProtVAR_007119Diseasep.ALA588VALGitelman syndrome (GS)
Swiss-ProtVAR_039504Diseasep.ARG399CYSGitelman syndrome (GS)
Swiss-ProtVAR_039519Diseasep.ARG642CYSGitelman syndrome (GS)
Swiss-ProtVAR_039524Diseasep.ARG655CYSGitelman syndrome (GS)
Swiss-ProtVAR_039532Diseasep.ARG852CYSGitelman syndrome (GS)
Swiss-ProtVAR_039538Polymorphismp.ARG919CYSN/A
Swiss-ProtVAR_039483Diseasep.ARG158GLNGitelman syndrome (GS)
Swiss-ProtVAR_039489Diseasep.ARG209GLNGitelman syndrome (GS)
Swiss-ProtVAR_039537Polymorphismp.ARG904GLNN/A
Swiss-ProtVAR_007126Diseasep.ARG955GLNGitelman syndrome (GS)
Swiss-ProtVAR_039520Diseasep.ARG642GLYGitelman syndrome (GS)
Swiss-ProtVAR_039539Diseasep.ARG958GLYGitelman syndrome (GS)
Swiss-ProtVAR_039480Diseasep.ARG145HISGitelman syndrome (GS)
Swiss-ProtVAR_039493Diseasep.ARG261HISGitelman syndrome (GS)
Swiss-ProtVAR_039521Diseasep.ARG642HISGitelman syndrome (GS)
Swiss-ProtVAR_007121Diseasep.ARG655HISGitelman syndrome (GS)
Swiss-ProtVAR_039533Diseasep.ARG852HISGitelman syndrome (GS)
Swiss-ProtVAR_039536Diseasep.ARG871HISGitelman syndrome (GS)
Swiss-ProtVAR_007122Diseasep.ARG655LEUGitelman syndrome (GS)
Swiss-ProtVAR_060106Polymorphismp.ARG854LYSN/A
Swiss-ProtVAR_039534Diseasep.ARG852SERGitelman syndrome (GS)
Swiss-ProtVAR_007113Diseasep.ARG209TRPGitelman syndrome (GS)
Swiss-ProtVAR_039500Diseasep.ARG321TRPGitelman syndrome (GS)
Swiss-ProtVAR_039501Diseasep.ARG334TRPGitelman syndrome (GS)
Swiss-ProtVAR_007116Diseasep.ASP486ASNGitelman syndrome (GS)
Swiss-ProtVAR_039476Diseasep.ASP62ASNGitelman syndrome (GS)
Swiss-ProtVAR_007115Diseasep.CYS421ARGGitelman syndrome (GS)
Swiss-ProtVAR_039540Diseasep.CYS985TYRGitelman syndrome (GS)
Swiss-ProtVAR_039477Diseasep.GLU68LYSGitelman syndrome (GS)
Swiss-ProtVAR_039502Diseasep.GLY342ALAGitelman syndrome (GS)
Swiss-ProtVAR_039529Diseasep.GLY731ARGGitelman syndrome (GS)
Swiss-ProtVAR_007124Diseasep.GLY741ARGGitelman syndrome (GS)
Swiss-ProtVAR_039488Diseasep.GLY186ASPGitelman syndrome (GS)
Swiss-ProtVAR_039492Diseasep.GLY230ASPGitelman syndrome (GS)
Swiss-ProtVAR_007117Diseasep.GLY496CYSGitelman syndrome (GS)
Swiss-ProtVAR_039506Diseasep.GLY463GLUGitelman syndrome (GS)
Swiss-ProtVAR_039505Diseasep.GLY439SERGitelman syndrome (GS)
Swiss-ProtVAR_039515Diseasep.GLY613SERGitelman syndrome (GS)
Swiss-ProtVAR_039535Diseasep.GLY867SERGitelman syndrome (GS)
Swiss-ProtVAR_039499Diseasep.GLY316VALGitelman syndrome (GS)
Swiss-ProtVAR_039503Diseasep.GLY374VALGitelman syndrome (GS)
Swiss-ProtVAR_007120Diseasep.GLY630VALGitelman syndrome (GS)
Swiss-ProtVAR_039528Diseasep.GLY729VALGitelman syndrome (GS)
Swiss-ProtVAR_039478Diseasep.HIS69ASNGitelman syndrome (GS)
Swiss-ProtVAR_039479Diseasep.HIS90TYRGitelman syndrome (GS)
Swiss-ProtVAR_039482Diseasep.ILE154PHEGitelman syndrome (GS)
Swiss-ProtVAR_039530Diseasep.LEU738ARGGitelman syndrome (GS)
Swiss-ProtVAR_039531Diseasep.LEU849HISGitelman syndrome (GS)
Swiss-ProtVAR_039490Diseasep.LEU215PROGitelman syndrome (GS)
Swiss-ProtVAR_039509Diseasep.LEU542PROGitelman syndrome (GS)
Swiss-ProtVAR_039518Diseasep.LEU623PROGitelman syndrome (GS)
Swiss-ProtVAR_007125Diseasep.LEU850PROGitelman syndrome (GS)
Swiss-ProtVAR_039496Diseasep.LYS284ARGGitelman syndrome (GS)
Swiss-ProtVAR_039508Diseasep.LYS478GLUGitelman syndrome (GS)
Swiss-ProtVAR_039525Diseasep.MET672ILEGitelman syndrome (GS)
Swiss-ProtVAR_039511Diseasep.PRO560HISGitelman syndrome (GS)
Swiss-ProtVAR_007114Diseasep.PRO349LEUGitelman syndrome (GS)
Swiss-ProtVAR_039522Diseasep.PRO643LEUGitelman syndrome (GS)
Swiss-ProtVAR_039486Diseasep.SER178LEUGitelman syndrome (GS)
Swiss-ProtVAR_039510Diseasep.SER555LEUGitelman syndrome (GS)
Swiss-ProtVAR_039516Diseasep.SER615LEUGitelman syndrome (GS)
Swiss-ProtVAR_039517Diseasep.SER615TRPGitelman syndrome (GS)
Swiss-ProtVAR_039495Diseasep.SER283TYRGitelman syndrome (GS)
Swiss-ProtVAR_039523Diseasep.THR649ARGGitelman syndrome (GS)
Swiss-ProtVAR_039487Diseasep.THR180LYSGitelman syndrome (GS)
Swiss-ProtVAR_039484Diseasep.THR163METGitelman syndrome (GS)
Swiss-ProtVAR_039475Diseasep.THR60METGitelman syndrome (GS)
Swiss-ProtVAR_039497Diseasep.THR304PROGitelman syndrome (GS)
Swiss-ProtVAR_039485Diseasep.TRP172ARGGitelman syndrome (GS)
Swiss-ProtVAR_039526Diseasep.VAL677LEUGitelman syndrome (GS)
Swiss-ProtVAR_039481Diseasep.VAL153METGitelman syndrome (GS)
Swiss-ProtVAR_039514Diseasep.VAL578METGitelman syndrome (GS)
Swiss-ProtVAR_039527Diseasep.VAL677METGitelman syndrome (GS)



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