Identification of functional SNPs in PAX3 gene and in silico analysis of damaging SNPs in relation to neural tube defect

A change of Thr315Lys, i.e. from polar neutral amino acid to polar basic amino acid showed a change in charge to positive and size of amino acid lead to change in structure. The modeled structure further, showed a decrease in stability. The result obtained from insilico study would open new prospect for association of PAX3 with neural tube defect.