Results for the protein: P15538

Results for the Protein: P15538

215274267

1584

CYP11B1

NCBI, UniProt

C11B1_HUMAN RecName: Full=Cytochrome P450 11B1, mitochondrial; AltName: Full=CYPXIB1; AltName: Full=Cytochrome P-450c11; Short=Cytochrome P450C11; AltName: Full=Steroid 11-beta-hydroxylase; Flags: Precursor

Known Diseases associated with this Protein:
  ADRENAL HYPERPLASIA 4 (AH4)
  ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE
  DEFICIENCY

20

14

10

4

20

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Default View:	Swiss-Prot Protein: P15538 Identical to: NP_000488 Default View:

Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_014149	Polymorphism	p.ALA348THR	N/A
dbSNP	rs4541	Polymorphism	p.ALA386VAL	N/A
Swiss-Prot	VAR_065197	Disease	p.ARG454CYS	Adrenal hyperplasia 4 (AH4)
Swiss-Prot	VAR_001264	Disease	p.ARG374GLN	Adrenal hyperplasia 4 (AH4)
dbSNP	rs4534	Polymorphism	p.ARG43GLN	N/A
Swiss-Prot	VAR_048463	Polymorphism	p.ARG404HIS	N/A
Swiss-Prot	VAR_001265	Disease	p.ARG448HIS	Adrenal hyperplasia 4 (AH4)
Swiss-Prot	VAR_001261	Disease	p.ASN133HIS	Adrenal hyperplasia 4 (AH4)
Swiss-Prot	VAR_014638	Polymorphism	p.ASP63HIS	N/A
Swiss-Prot	VAR_014145	Polymorphism	p.CYS10TYR	N/A
Swiss-Prot	VAR_065196	Disease	p.GLY379VAL	Adrenal hyperplasia 4 (AH4)
Swiss-Prot	VAR_014148	Polymorphism	p.LEU293VAL	N/A
dbSNP	rs142163070	Polymorphism	p.LYS173ARG	N/A
Swiss-Prot	VAR_014147	Polymorphism	p.MET160ILE	N/A
Swiss-Prot	VAR_008687	Polymorphism	p.PHE494CYS	N/A
Swiss-Prot	VAR_014640	Polymorphism	p.PHE257LEU	N/A
Swiss-Prot	VAR_065666	Disease	p.PRO94LEU	Adrenal hyperplasia 4 (AH4)
Swiss-Prot	VAR_001260	Disease	p.PRO42SER	Adrenal hyperplasia 4 (AH4)
Swiss-Prot	VAR_014641	Polymorphism	p.SER281ASN	N/A
Swiss-Prot	VAR_065667	Disease	p.THR318ARG	Adrenal hyperplasia 4 (AH4)
Swiss-Prot	VAR_048462	Polymorphism	p.THR248ILE	N/A
Swiss-Prot	VAR_001262	Disease	p.THR318MET	Adrenal hyperplasia 4 (AH4)
Swiss-Prot	VAR_001263	Disease	p.THR319MET	Adrenal hyperplasia 4 (AH4)
dbSNP	rs5294	Polymorphism	p.TYR439HIS	N/A
OMIM	610613.0017	Disease	p.ALA368ASP	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE\|\|DEFICIENCY
OMIM	610613.0004	Disease	p.ARG374GLN	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE\|\|DEFICIENCY
OMIM	610613.0001	Disease	p.ARG448HIS	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE\|\|DEFICIENCY
OMIM	610613.0007	Disease	p.ASN133HIS	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE\|\|DEFICIENCY
OMIM	610613.0016	Disease	p.PRO94LEU	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE\|\|DEFICIENCY
OMIM	610613.0009	Disease	p.PRO42SER	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE\|\|DEFICIENCY
OMIM	610613.0003	Disease	p.THR318MET	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE\|\|DEFICIENCY
OMIM	610613.0008	Disease	p.THR319MET	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE\|\|DEFICIENCY
OMIM	610613.0006	Disease	p.TRP116TER	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE\|\|DEFICIENCY
OMIM	610613.0015	Disease	p.TYR423TER	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE\|\|DEFICIENCY

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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