Health / Medical Topics

    CYP2C19*1 Allele

    Human CYP2C19*1 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*1 protein. There are multiple haplotypes of this allele. The nucleotide sequence of CYP2C19*1A is identical to that of the wild-type allele and exhibits no mutations. CYP2C19*1B and CYP2C19*1C both exhibit a SNP (c.991A>G) in exon 7 that results in an I331V coding change. This alteration in protein sequence has no effect on the enzymatic activity of the corresponding cytochrome P450 2C19*1 proteins. (NCI Thesaurus)




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