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Results for the Protein: P08686
117275

CP21A_HUMAN RecName: Full=Steroid 21-hydroxylase; AltName: Full=21-OHase; AltName: Full=Cytochrome P-450c21; AltName: Full=Cytochrome P450 21; AltName: Full=Cytochrome P450 XXI; AltName: Full=Cytochrome P450-C21; AltName: Full=Cytochrome P450-C21B

Known Diseases associated with this Protein:
  ADRENAL HYPERPLASIA 3 (AH3)
58
7
0
0
65
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Swiss-Prot Protein: P08686
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_026059Diseasep.ALA15THRAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_007924Diseasep.ALA362VALAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026072Diseasep.ARG354CYSAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026077Diseasep.ARG408CYSAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026080Diseasep.ARG435CYSAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001297Diseasep.ARG356GLNAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_018368Diseasep.ARG483GLNAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026062Diseasep.ARG124HISAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001294Diseasep.ARG339HISAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026073Diseasep.ARG354HISAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026079Diseasep.ARG426HISAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026081Diseasep.ARG479LEUAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_065675Diseasep.ARG233LYSAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_018367Diseasep.ARG341PROAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001296Diseasep.ARG356PROAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001301Diseasep.ARG483PROAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001295Diseasep.ARG341TRPAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001298Diseasep.ARG356TRPAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_065678Diseasep.ARG369TRPAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026083Diseasep.ARG483TRPAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001302Polymorphismp.ASN493SERN/A
Swiss-ProtVAR_001287Polymorphismp.ASP183GLUN/A
Swiss-ProtVAR_001285Diseasep.CYS169TYRAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001299Diseasep.GLU380ASPAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_065677Diseasep.GLU320LYSAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026063Diseasep.GLY178ALAAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_018365Diseasep.GLY291ARGAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_065668Diseasep.GLY56ARGAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_065676Diseasep.GLY292ASPAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026068Diseasep.GLY291CYSAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_007923Diseasep.GLY64GLUAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001293Diseasep.GLY291SERAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026076Polymorphismp.GLY375SERN/A
Swiss-ProtVAR_026078Diseasep.GLY424SERAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026061Diseasep.GLY90VALAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_018364Diseasep.HIS62LEUAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026075Diseasep.HIS365TYRAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001286Diseasep.ILE172ASNAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001288Diseasep.ILE236ASNAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_065674Diseasep.ILE230THRAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_065669Diseasep.ILE77THRAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_065670Diseasep.LEU107ARGAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026071Diseasep.LEU317METAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026069Diseasep.LEU300PHEAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_065672Diseasep.LEU142PROAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_065673Diseasep.LEU167PROAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026065Diseasep.LEU261PROAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026074Diseasep.LEU363TRPAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001283Polymorphismp.LYS102ARGN/A
Swiss-ProtVAR_001282Polymorphismp.LYS98ARGN/A
Swiss-ProtVAR_065671Diseasep.LYS121GLNAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026067Diseasep.MET283LEUAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001290Diseasep.MET239LYSAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026060Diseasep.PRO30GLNAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001284Diseasep.PRO105LEUAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001281Diseasep.PRO30LEUAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001300Diseasep.PRO453SERAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026082Diseasep.PRO482SERAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001291Polymorphismp.SER268THRN/A
Swiss-ProtVAR_018366Diseasep.SER301TYRAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001289Diseasep.VAL237GLUAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026066Diseasep.VAL281GLYAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026064Diseasep.VAL211LEUAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_001292Diseasep.VAL281LEUAdrenal hyperplasia 3 (AH3)
Swiss-ProtVAR_026070Polymorphismp.VAL304METN/A



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