CYP2D6*7 Allele
Human CYP2D6*7 allele is located in the vicinity of 22q13.1 and is approximately 4 kb in length. This allele, a variant form of the CYP2D6 wild-type allele, encodes cytochrome P450 2D6*7 protein. The CYP2D6*7 allele exhibits a clinically-relevant SNP (g.2935A>C) that results in a H324P coding change. This alteration in amino acid sequence causes an alteration of the 3D protein structure in close vicinity to the active site that abolishes the enzymatic activity of the cytochrome P450 2D6*7 protein. [ ]
Term info
CYP2D6*7 Allele
- CYP2D6*7
- CYP2D6*7 Allele
- CYP2D6, H324P
- CYP2D6, g.2935A>C
- CYP2D6E
- Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*7 Allele
NCIT_C116977, NCIT_C142800, NCIT_C142799
CTRP
Ethnicity Association: Caucasian; Middle Eastern
CYP2D6*7 Allele
NM_000106
Cytochrome P450 2D6
CYP2D6_7_Allele
124030
CYP2D6*7 Allele
7845481
Gene or Genome
C1707229
C46042
Term relations
- CYP2D6 Gene
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_In_Chromosomal_Location some 22q13.1
- Allele_Has_Abnormality some Adenosine to Cytosine Transversion Abnormality
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_Has_Abnormality some Transversion Mutation
- Allele_Has_Activity some Absence of Biochemical Activity