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Talk:Rs56411402

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Is the *4 allele really nonfunctional? Even though there's an amino acid change, I haven't found any papers claiming reduced activity.

The following paper bins this genotype with "defectives" and has it linked with *9, which may explain any decreased activity... but I don't see any information about *4 unbinned. Genetic variations in ABCB1 and CYP3A5 as well as sex influence quinine disposition among Ugandans. Ther Drug Monit. 2010 Jun;32(3):346-52. doi: 10.1097/FTD.0b013e3181da79d6.

Agreed - I can't find any evidence either showing that the *4 allele on it's own is defective. Perhaps it's good news that the only CYP3A5 allele that is considered actionable is *3 anyway. I recommend clarifying the information about *4 to indicate "suggested to be nonfunctional by not confirmed" or somesuch.Greg (talk) 20:04, 15 April 2014 (UTC)