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. 2014 Aug 4;9(8):e104000. doi: 10.1371/journal.pone.0104000

Figure 2. Mutation analysis of TRPM3.

Figure 2

(A) Sanger sequence trace of the wild-type allele showing translation of isoleucine (I) at codon 65 (ATA) of variant 1 (isoform k), and at codon 8 of a novel lens variant. (B) Sequence trace of the mutant allele showing the heterozygous A-to-G transition (denoted R by the International Union of Pure and Applied Chemistry [IUPAC] code) that is predicted to result in the missense substitution of methionine (ATG) for isoleucine at codon 65 (c.195A>G, p.I65 M) of isoform k, and at codon 8 of a lens abundant isoform (c.24A>G, p.I8 M). (C) Restriction fragment length analysis showing gain of a Fok I site (5′GGATG[9/13]) that co-segregated with affected individuals heterozygous for the A-to-G transition (175 bp).