Results for the protein: NP

Results for the Protein: NP_000093

4503195

1586

CYP17A1

NCBI

steroid 17-alpha-hydroxylase/17,20 lyase precursor [Homo sapiens]

Known Diseases associated with this Protein:
  17,20-@LYASE DEFICIENCY, ISOLATED
  17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
  17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL
  BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED

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Default View: p450 - pfam00067 CypX - COG2124	RefSeq Protein: NP_000093 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
p450	pfam00067	8e-193	28	493

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	609300.0021	Disease	p.ARG347CYS	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL
OMIM	609300.0023	Disease	p.ARG362CYS	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM	609300.0030	Disease	p.ARG125GLN	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM	609300.0013	Disease	p.ARG358GLN	17,20-@LYASE DEFICIENCY, ISOLATED
OMIM	609300.0029	Disease	p.ARG96GLN	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM	609300.0012	Disease	p.ARG347HIS	17,20-@LYASE DEFICIENCY, ISOLATED
OMIM	609300.0031	Disease	p.ARG416HIS	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM	609300.0006	Disease	p.ARG239TER	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL\|\|BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
OMIM	609300.0009	Disease	p.ARG96TRP	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM	609300.0020	Disease	p.ASP116VAL	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL
OMIM	609300.0018	Disease	p.PHE93CYS	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM	609300.0033	Disease	p.PHE453SER	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL
OMIM	609300.0019	Disease	p.PHE114VAL	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM	609300.0026	Disease	p.PRO428LEU	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM	609300.0007	Disease	p.PRO342THR	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL
OMIM	609300.0004	Disease	p.SER106PRO	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM	609300.0024	Disease	p.TRP406ARG	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM	609300.0016	Disease	p.TRP17TER	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM	609300.0027	Disease	p.TYR201ASN	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL
OMIM	609300.0025	Disease	p.TYR329ASP	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM	609300.0028	Disease	p.TYR27TER	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE

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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