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These variants are distributed as follows: two variants were found in
50-UTR, 17 variants were located in introns and 22 variants located in exons.At the time of this sequence analysis of our samples these two variants(D479N and L674L) were novel.From the 22 variants in exons, 11 of which were synonymous, 11 nonsynonymous SNPs, and five were novel (p.W73X, p.D479N, p.E523K, p.L674L, p.I799I; Fig.From the two variants in 50-UTR, one was novel (g.-2 T > G; Fig.4 [2-6], respectively).4[1]).
These variants are distributed as follows: two variants were found in
50-UTR, 17 variants were located in introns and 22 variants located in exons. From the two variants in 50-UTR, one was novel (g.-2 T > G; Fig. 4[1]). From the 17 variants in introns, 15 of which were known variants, and two variants were novel (g.865 + 132C > T and g.1371 + 120 T > A). No variants were found in the parts sequenced from introns 1, 2, 8, 9, 13, 15, and 16. From the 22 variants in exons, 11 of which were synonymous, 11 nonsynonymous SNPs, and five were novel (p.W73X, p.D479N, p.E523K, p.L674L, p.I799I; Fig. 4 [2–6], respectively). At the time of this sequence analysis of our samples these two variants(D479N and L674L) were novel. However, these variants are present at very low allele frequency in other populations (L674L, 0.00007761 and D479N, 0.000003980). No variants were found in exons 4, 6, 8, 10, and 15.
(D479N and L674L) were novel. However, these variants are
present at very low allele frequency in other populations
(L674L, 0.00007761 and D479N, 0.000003980). No variants
were found in exons 4, 6, 8, 10, and 15.
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