Table 6

Age estimates of clinically relevant CYP3A5 variants
CYP3A5 variant Location on chromosome 7 Location in gene Allele dated Number of chromosomes Average squared distance (ASD) Time to most recent common ancestor 95% confidence intervals of allele age estimate based on a star phylogeny
Estimate of allele age Lower Upper
Generations Years Generations Years Generations Years
CYP3A5*3 99270539 Intron 3 G 134 1.0746 2388 76,416 1797 57,504 3211 102,752
CYP3A5*6 99262835 Exon 7 A 18 3.0714 6825 218,400 3086 98.752 11975 383,200
rs15524 99245914 3ยด UTR T 324 1.8426 4095 131,040 3157 101,024 5413 173,216

Allele ages were estimated using a mutation rate of 0.00045 and a generation time of 32 years. The confidence intervals for the estimated age of the CYP3A5*6 are large; most likely a reflection of the small sample size. UTR is the Untranslated Region.

Bains et al.

Bains et al. BMC Genetics 2013 14:34   doi:10.1186/1471-2156-14-34

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