Description:
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 10
CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
CYP2D6 |
| Chromosomal Location |
22q13.1 |
| Allelic Variant 1 |
T107I; R296C; S486T; DEBRISOQUINE, POOR METABOLISM OF |
| Identified Mutation |
THR107ILE, ARG296CYS, AND SER486THR; This allelic variant is also known as CYP2D6*17 or CYP2D6(Z). Oscarson et al (Mol Pharmacol 52(6):1034-40, 1997) found that in many black African populations, the capacity for CYP2D6-dependent drug metabolism is generally reduced. A specific variant of the CYP2D6 gene (CYP2D6*17) that carries three functional mutations (T107I, R296C, and S486T) has been found to be present in Zimbabwean subjects with impaired CYP2D6-dependent hydroxylase activity. |
| Remarks |
Donor subject is heterozygous for a variant CYP2D6 gene (CYP2D6*17) which contains three amino acid substitutions: a C>T mutation at nucleotide 1111 resulting in thr107-to-ile substitution [Thr107Ile (T107I)] , a C>T transition at nucleotide 2938 in exon 6 resulting in an arg296-to-cys [Arg296Cys (R296C)] and a G>C transversion at nucleotide 4268 in exon 9 resulting in a ser486-to-thr [Ser486Thr (S486T)] |
| Mun S, Kim S, Lee W, Kang K, Meyer TJ, Han BG, Han K, Kim HS, A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome Experimental & molecular medicine53:615-630 2019 |
| PubMed ID: 33833373 |
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| Wang X, Abudu A, Son S, Dang Y, Venta PJ, Zheng YH, Analysis of Human APOBEC3H Haplotypes and Anti-Human Immunodeficiency Virus Type-1 Activity Journal of virology85(7):3142-52 2011 |
| PubMed ID: 21270145 |
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| Gonzalez-Covarrubias V, Ghosh D, Lakhman SS, Pendyala L, Blanco JG, A functional genetic polymorphism on human carbonyl reductase 1 (CBR1 V88I) impacts on catalytic activity and NADPH binding affinity Drug metabolism and disposition: the biological fate of chemicals35:973-80 2007 |
| PubMed ID: 17344335 |
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| Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN, Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet74(6):1111-20 2004 |
| PubMed ID: 15114531 |
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