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Results for the Protein: NP_000491
323510663

steroid 21-hydroxylase isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  ADENOMA, CORTISOL-PRODUCING, INCLUD
  ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
  ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY,
  CLASSIC TYPE
  NONCLASSIC TYPE
  SALT-WASTING TYPE
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Default View:

CypX - COG2124
p450 - pfam00067


RefSeq Protein: NP_000491
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
p450pfam000673e-10928481

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs9501393 Polymorphismp.ARG235GLYN/A
dbSNPrs28615950 Polymorphismp.ARG209HISN/A
dbSNPrs62402680 Polymorphismp.GLU266ASPN/A
dbSNPrs41315836 Polymorphismp.LEU279ARGN/A
dbSNPrs28539678 Polymorphismp.TRP272ARGN/A
OMIM613815.0007 Diseasep.GLY292SERADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY,||SALT-WASTING TYPE
OMIM613815.0034 Diseasep.HIS62LEUADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
OMIM613815.0001 Diseasep.ILE172ASNADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY,||CLASSIC TYPE
OMIM613815.0035 Diseasep.LYS121GLNADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
OMIM613815.0004 Diseasep.PRO30LEUADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY,||NONCLASSIC TYPE
OMIM613815.0002 Diseasep.VAL281LEUADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY,||NONCLASSIC TYPE||ADENOMA, CORTISOL-PRODUCING, INCLUD



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