CYP2C19*5 Allele
Human CYP2C19*5 allele is located within 10q24.1-q24.3 and is approximately 90 kb in length. This allele, a variant form of the CYP2C19 wild-type allele, encodes cytochrome P450 2C19*5 protein. The CYP2C19*5 allele exhibits a clinically-relevant SNP (c.1297C>T) in exon 9 that results in a R433W coding change in the heme-binding region of the protein. This alteration in protein sequence abolishes the enzymatic activity of the cytochrome P450 2C19*5 protein. [ ]
Term info
CYP2C19*5 Allele
- CYP2C19*5
- CYP2C19*5 Allele
- CYP2C19, R433W
- CYP2C19, c.1297C>T
- CYP2C19, m4
- Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*5 Allele
NCIT_C116977, NCIT_C142800, NCIT_C142799
CTRP
Ethnicity Association: Asian; Caucasian
CYP2C19*5 Allele
NM_000769
Cytochrome P450 2C19
CYP2C19_5_Allele
124020
CYP2C19*5 Allele
10022751, 9103550
Gene or Genome
C1707184
C45609
Term relations
- CYP2C19 Gene
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_In_Chromosomal_Location some 10q24.1-q24.3
- Allele_Has_Abnormality some Cytosine to Thymidine Transition Abnormality
- Allele_Has_Abnormality some Transition Mutation
- Allele_Has_Activity some Absence of Biochemical Activity