Research Article

Identification of Missense Mutation (I12T) in the BSND Gene and Bioinformatics Analysis

Figure 2

Representative chromatogram generated by Big Dye Terminator, sequencing of translated exon1 of BSND gene indicating a T to C transition at nucleotide 35 (35T > C) from an affected female individual (VI-1) (a), a heterozygous carrier (VI-1) (b) and a normal male individual (V-2) (c) of the family. The T to C transition at nucleotide position 35 results in isoleucine to threonine change at amino acid 12 (I12T). Arrows indicate the nucleotide change in the sequence.
304612.fig.002a
(a)
304612.fig.002b
(b)
304612.fig.002c
(c)