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. 2003 Feb 4;72(3):728–732. doi: 10.1086/368063

Figure 2.

Figure 2

Identification of EVC2 mutations. For each mutation, mutant genomic sequence is shown above corresponding wild-type sequence. Numbering starts at the translation start site in AY185210. The first two mutations are a single-base deletion (exon 22) and a single-base insertion (exon 14) that rapidly introduce stop codons. 3660delC is the mutation in the pedigree in figure 1. The C1195T (exon 10) and C1855T (exon 12) transitions introduce stop codons. T848G (exon 7) results in arginine replacing an isoleucine residue. The five-nucleotide insertion, 198 insGGCGG in exon 1, was found in the Brazilian pedigree described by Oliveira da Silva et al. (1980).