Results for the protein: P11712

Results for the Protein: P11712

6686268

1559

CYP2C9

NCBI, UniProt

CP2C9_HUMAN RecName: Full=Cytochrome P450 2C9; AltName: Full=(R)-limonene 6-monooxygenase; AltName: Full=(S)-limonene 6-monooxygenase; AltName: Full=(S)-limonene 7-monooxygenase; AltName: Full=CYPIIC9; AltName: Full=Cytochrome P-450MP; AltName: Full=Cytochrome P450 MP-4; AltName: Full=Cytochrome P450 MP-8; AltName: Full=Cytochrome P450 PB-1; AltName: Full=S-mephenytoin 4-hydroxylase

Known Diseases associated with this Protein:
  GLIPIZIDE POOR M
  PHENYTOIN POOR METABOLIZER, INCLUDED;;
  TOLBUTAMIDE POOR METABOLIZER
  WARFARIN SENSITIVITY
  WARFARIN SENSITIVITY, INCLUDED;;

3

13

3

5

8

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Default View: p450 - pfam00067 CypX - COG2124	Swiss-Prot Protein: P11712 Identical to: NP_000762 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CypX	COG2124	2e-18	31	485

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1799853	Polymorphism	p.ARG144CYS	N/A
dbSNP	rs7900194	Polymorphism	p.ARG150HIS	N/A
dbSNP	rs28371685	Polymorphism	p.ARG335TRP	N/A
Swiss-Prot	VAR_013516	Polymorphism	p.ASP360GLU	N/A
Swiss-Prot	VAR_018865	Polymorphism	p.GLU272GLY	N/A
Swiss-Prot	VAR_008346	Polymorphism	p.GLY417ASP	N/A
dbSNP	rs2256871	Polymorphism	p.HIS251ARG	N/A
dbSNP	rs1057910	Polymorphism	p.ILE359LEU	N/A
Swiss-Prot	VAR_013515	Polymorphism	p.ILE359THR	N/A
Swiss-Prot	VAR_018862	Polymorphism	p.LEU19ILE	N/A
Swiss-Prot	VAR_024717	Polymorphism	p.LEU413PRO	N/A
Swiss-Prot	VAR_018867	Polymorphism	p.PRO489SER	N/A
Swiss-Prot	VAR_008344	Polymorphism	p.TYR358CYS	N/A
OMIM	601130.0002	Disease	p.ARG144CYS	WARFARIN SENSITIVITY
OMIM	601130.0001	Disease	p.ILE359LEU	TOLBUTAMIDE POOR METABOLIZER\|\|WARFARIN SENSITIVITY, INCLUDED;;\|\|PHENYTOIN POOR METABOLIZER, INCLUDED;;\|\|GLIPIZIDE POOR M
OMIM	601130.0003	Disease	p.LEU208VAL	WARFARIN SENSITIVITY

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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