Results for the protein: P05093

Results for the Protein: P05093

117283

1586

CYP17A1

NCBI, UniProt

CP17A_HUMAN RecName: Full=Steroid 17-alpha-hydroxylase/17,20 lyase; AltName: Full=17-alpha-hydroxyprogesterone aldolase; AltName: Full=CYPXVII; AltName: Full=Cytochrome P450 17A1; AltName: Full=Cytochrome P450-C17; Short=Cytochrome P450c17; AltName: Full=Steroid 17-alpha-monooxygenase

Known Diseases associated with this Protein:
ADRENAL HYPERPLASIA 5 (AH5)

21

1

0

0

22

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Default View:	Swiss-Prot Protein: P05093 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_022752	Disease	p.ARG347CYS	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_022753	Disease	p.ARG362CYS	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_001280	Disease	p.ARG496CYS	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_001276	Disease	p.ARG358GLN	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_001275	Disease	p.ARG347HIS	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_001278	Disease	p.ARG440HIS	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_022757	Disease	p.ARG496HIS	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_022746	Disease	p.ARG96TRP	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_022749	Disease	p.ASN177ASP	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_022748	Disease	p.ASP116VAL	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_011755	Polymorphism	p.CYS22TRP	N/A
Swiss-Prot	VAR_001277	Disease	p.HIS373LEU	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_022755	Disease	p.PHE417CYS	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_013147	Disease	p.PHE93CYS	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_022747	Disease	p.PHE114VAL	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_022745	Disease	p.PRO35LEU	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_022756	Disease	p.PRO428LEU	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_001274	Disease	p.PRO342THR	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_001272	Disease	p.SER106PRO	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_022754	Disease	p.TRP406ARG	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_022750	Disease	p.TYR329ASP	Adrenal hyperplasia 5 (AH5)
Swiss-Prot	VAR_001271	Disease	p.TYR64SER	Adrenal hyperplasia 5 (AH5)

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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