CYP2C8*5 Allele
Human CYP2C8*5 allele is located in the vicinity of 10q23.33 and is approximately 33 kb in length. This allele, a variant form of the CYP2C8 wild-type allele, encodes cytochrome P450 2C8*5 protein. The CYP2C8*5 allele exhibits a clinically-relevant single nucleotide deletion (c.475delA), resulting in a coding frameshift that is predicted to cause amino acid alterations from codon 159 and an early stop codon at residue 477. The cytochrome P450 2C8*5 protein is predicted to be enzymatically inactive since it lacks 64% of the protein coding structure, a region which includes the heme binding site and 5 out of 6 substrate recognition sites. [ ]
Term info
CYP2C8*5 Allele
- CYP2C8*5
- CYP2C8*5 Allele
- CYP2C8, c.475delA
- Cytochrome P450, Family 2, Subfamily C, Polypeptide 8*5 Allele
NCIT_C116977, NCIT_C142800, NCIT_C142799
CTRP
Ethnicity Association: Asian
CYP2C8*5 Allele
NM_000770
CYP2C8_5_Allele
601129
CYP2C8*5 Allele
15618689
Gene or Genome
C1707192
C46033
Term relations
- CYP2C8 Gene
- Allele_Has_Abnormality some Frameshift Mutation
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_Has_Abnormality some Protein Truncation Abnormality
- Allele_In_Chromosomal_Location some 10q23.33
- Allele_Has_Abnormality some Deletion Mutation
- Allele_Has_Activity some Absence of Biochemical Activity