frequency of hnf4a-p.i463v variant in the tunisian north-african population and its relation with diabetes mellitus.

hnf4a-p.i463vvariant, reported previously in two distinct families suspected of mody-1, is assessed in this report to determine whether it is a mutation or a polymorphism (frequency >1%).200 tunisian healthy people were screened for the presence of hnf4a-p.i463v variant, using rflp-pcr technique and sequencing. then, the frequency of this variant was estimated in the tunisian population and compared to other populations registered in genetic databases. we also performed in-silico analysis using polyphen2 and mutation t@sting softwares to assess the probable effect of hnf4a-p.i463v variant.hnf4a-p.i463v had a rare frequency in different populations and was found in 3 control subjects (1.5%) of the studied population. polyphen2 predicted that it is a polymorphism, whereas mutation t@sting suggested a probably affected mutant protein.hnf4a-p.i463v has a relatively high frequency (>1%) in our control cohort. it is also present in different ethnicities and in- silico analysis showed conflicting results. for these reasons, hnf4a-p.i463v should not be considered as a mutation responsible for mody-1.