Figure 2. Mutations in SLC4A11 causing CHED2. A: Partial nucleotide sequence SLC4A11. The chromatograms of the patients (P) are shown in comparison to controls (C). The homozygous G >A substitution is marked by the block. The block denotes the nucleotide with a missense mutation resulting in amino acid substitution of valine at amino acid position 824 with methionine. B: The homozygous T>C substitution is marked by the block. The block denotes the nucleotide with a missense mutation resulting in amino acid substitution of cysteine at amino acid position 386 with arginine. C: The homozygous G>A substitution is marked by the block. The block denotes the nucleotide with a missense mutation resulting in a splice site mutation c.2240+1G>A.