Results for the protein: NP

Results for the Protein: NP_000753

189339233

1548

CYP2A6

NCBI

cytochrome P450 2A6 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  COUMARIN, POOR METABOLISM OF
  CYP2A6*11
  CYP2A6, V1;;
  CYPA6*2
  NICOTINE, POOR METABOLISM OF, INCLUDED;;
  TEGAFUR, POOR METABOLISM OF

2

7

2

7

0

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Default View: p450 - pfam00067 CypX - COG2124	RefSeq Protein: NP_000753 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
p450	pfam00067	1.5e-206	34	491

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs28399463	Polymorphism	p.ASN418ASP	N/A
dbSNP	rs143731390	Polymorphism	p.ASN438TYR	N/A
dbSNP	rs8192730	Polymorphism	p.GLU419ASP	N/A
dbSNP	rs5031017	Polymorphism	p.GLY479VAL	N/A
dbSNP	rs1801272	Polymorphism	p.LEU160HIS	N/A
dbSNP	rs1809810	Polymorphism	p.PHE392TYR	N/A
dbSNP	rs28399454	Polymorphism	p.VAL365MET	N/A
OMIM	122720.0001	Disease	p.LEU160HIS	COUMARIN, POOR METABOLISM OF\|\|NICOTINE, POOR METABOLISM OF, INCLUDED;;\|\|CYP2A6, V1;;\|\|CYPA6*2
OMIM	122720.0003	Disease	p.SER224PRO	TEGAFUR, POOR METABOLISM OF\|\|CYP2A6*11

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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