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As a powerful approach, in silico bioinformatics analysis could efficiently sort out mutations that are predicted to damage gene function.
Two of them, p.Trp22Cys and p.Thr443Asn, are predicted to damage 21-hydroxylase activity (PolyPhen tool (http://genetics.bwh.harvard.edu/pph/)).edu/pph/
We discovered three missense mutations in DMT102, all of which are predicted to damage the protein based on sequence conservation.
Each amino acid change was assessed using two programs to determine whether or not the amino acid change is predicted to damage protein function.
Persistent dysregulation of GR subcellular distribution is predicted to damage the hippocampal formation and may underlie many of the effects of PAE on hippocampal-dependent functioning.
a Mantel-Haenszel χ2 test The SIFT score for the MLH1 variants demonstrated that the R217C and V384D are sorted as intolerant, suggesting that these amino acid substitutions are predicted to damage protein function.
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These three missense mutations were predicted to be damaging in functional prediction by SIFT and PolyPhen2.
In particular, the largest proportion of CVs (326/461; 70.7%) in the concurrent group [C] was predicted to be damaging (Table S5).
These results suggest that some concurrent variations predicted to be damaging could be nsSNPs that affect protein function less severely than missense mutations.
Of these, only eight variants were novel and predicted to be damaging to protein function.
Of the 28 missense mutations that were assessed, 19 (68%) were predicted to be damaging.
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