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If someone has a non-functional rs41303343(T;T) SNP, yet that individual also possess the partially functional rs776746(A;G) SNP, is their CYP3A5 genotype functional or nonfunctional?

In other words, for this example, does the TT variant prevent the AG variant from expressing functional CYP3A5)?

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  • $\begingroup$ Where are these SNPs present with respect to the gene? The mutations may or may not have an epistatic effect. It is difficult to guess without knowing the position of the SNPs and how they interact with the gene. $\endgroup$ – WYSIWYG Apr 25 at 12:29
  • $\begingroup$ Great question. How can we tell, so that we can determine whether the homozygous SNP prevents expression of the functional CYP3A5 from one of the alleles in the heterozygous SNP? I presume this is well-characterized but I can't tell from the SNPedia entries for these. $\endgroup$ – John Apr 25 at 14:41
  • $\begingroup$ Can you map them to the co-ordinates of CYP3A5 and see where they are with respect to the gene (coding/non-coding/intergenic/promoter)? In any case it would be very difficult to predict how they would affect gene activity when they are together vs when they are individually present. If there is no published data on this then you would have to do an experiment yourself. Since there can be many possibilities, I am voting to close your question as broad. $\endgroup$ – WYSIWYG Apr 25 at 15:19
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There is likely no way to work this out in silico. You'd have to hope that someone has empirically examined the phenotype from that genotype.

Most of the time, a mutation that knocks out function will not be restored by a different mutation. But of course there are exceptions.

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