Figure 2

Sequence analysis of the novel TRPC6 mutation found in 3 family members. Shown is a partial electropherogram of Sanger DNA sequencing analysis of TRPC6 exon12 from the proband. The arrow shows the position of the heterozygous four base pair deletion resulting in a downstream frameshift. Shown above are the nucleotide and predicted amino acid sequences of the wild-type TRPC6 sequence (top line) and the heterozygous four base pair deletion (bottom line). The deleted nucleotides (GATA) are depicted in red font. The four base pair deletion results in a frame shift and premature protein truncation, five amino acids downstream [p.D873fsX878].