Results for the protein: P08686

Results for the Protein: P08686

117275

1589

CYP21A2

NCBI, UniProt

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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Default View:	Swiss-Prot Protein: P08686 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_026059	Disease	p.ALA15THR	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_007924	Disease	p.ALA362VAL	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026072	Disease	p.ARG354CYS	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026077	Disease	p.ARG408CYS	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026080	Disease	p.ARG435CYS	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001297	Disease	p.ARG356GLN	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_018368	Disease	p.ARG483GLN	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026062	Disease	p.ARG124HIS	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001294	Disease	p.ARG339HIS	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026073	Disease	p.ARG354HIS	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026079	Disease	p.ARG426HIS	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026081	Disease	p.ARG479LEU	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_065675	Disease	p.ARG233LYS	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_018367	Disease	p.ARG341PRO	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001296	Disease	p.ARG356PRO	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001301	Disease	p.ARG483PRO	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001295	Disease	p.ARG341TRP	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001298	Disease	p.ARG356TRP	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_065678	Disease	p.ARG369TRP	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026083	Disease	p.ARG483TRP	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001302	Polymorphism	p.ASN493SER	N/A
Swiss-Prot	VAR_001287	Polymorphism	p.ASP183GLU	N/A
Swiss-Prot	VAR_001285	Disease	p.CYS169TYR	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001299	Disease	p.GLU380ASP	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_065677	Disease	p.GLU320LYS	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026063	Disease	p.GLY178ALA	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_018365	Disease	p.GLY291ARG	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_065668	Disease	p.GLY56ARG	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_065676	Disease	p.GLY292ASP	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026068	Disease	p.GLY291CYS	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_007923	Disease	p.GLY64GLU	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001293	Disease	p.GLY291SER	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026076	Polymorphism	p.GLY375SER	N/A
Swiss-Prot	VAR_026078	Disease	p.GLY424SER	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026061	Disease	p.GLY90VAL	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_018364	Disease	p.HIS62LEU	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026075	Disease	p.HIS365TYR	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001286	Disease	p.ILE172ASN	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001288	Disease	p.ILE236ASN	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_065674	Disease	p.ILE230THR	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_065669	Disease	p.ILE77THR	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_065670	Disease	p.LEU107ARG	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026071	Disease	p.LEU317MET	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026069	Disease	p.LEU300PHE	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_065672	Disease	p.LEU142PRO	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_065673	Disease	p.LEU167PRO	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026065	Disease	p.LEU261PRO	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026074	Disease	p.LEU363TRP	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001283	Polymorphism	p.LYS102ARG	N/A
Swiss-Prot	VAR_001282	Polymorphism	p.LYS98ARG	N/A
Swiss-Prot	VAR_065671	Disease	p.LYS121GLN	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026067	Disease	p.MET283LEU	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001290	Disease	p.MET239LYS	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026060	Disease	p.PRO30GLN	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001284	Disease	p.PRO105LEU	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001281	Disease	p.PRO30LEU	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001300	Disease	p.PRO453SER	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026082	Disease	p.PRO482SER	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001291	Polymorphism	p.SER268THR	N/A
Swiss-Prot	VAR_018366	Disease	p.SER301TYR	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001289	Disease	p.VAL237GLU	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026066	Disease	p.VAL281GLY	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026064	Disease	p.VAL211LEU	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_001292	Disease	p.VAL281LEU	Adrenal hyperplasia 3 (AH3)
Swiss-Prot	VAR_026070	Polymorphism	p.VAL304MET	N/A

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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