Figure 2 of Lacassagne, Mol Vis 2011; 17:309-322.


Figure 2. Two novel nucleotidic mutations in the BEST1 gene. Electrophoregrams of the BEST1 gene mutations found in the affected members of the French family studied and phylogenetic conservation throughout evolution of the normal BEST-1 amino-acid residues affected by these mutations. A: These electrophoregrams show heterozygous mutated nucleotides in the BEST1 gene: An adenine (A) is replaced by a guanine (G) at the 430th nucleotidic position of the BEST1 cDNA sequence (c.430A>G) and and a cytosine (C) is replaced by an adenine (A) at the 15th nucleotidic position of the BEST1 cDNA sequence (c.15C>A) (top panel), and normal sequences (low panel). The peaks in red indicate thymidine (T), green indicate A, black indicate G, and blue indicate C. B: This panel shows the multiple sequence alignment of human bestrophin-1 protein (BEST-1 protein; NP_004174) with the BEST-1 protein sequences from Mus musculus (NP_036043.2), Rattus norvegicus (NP_001011940.1), Xenopus tropicalis (BAH70274.1), and Drosophila melanogaster (AAF54503.1). This multiple sequence alignment highlights the strong conservation throughout evolution of the amino-acid residues of the normal BEST-1 protein which were found affected by mutations in this study. C: This panel shows the multiple sequence alignment of the human BEST1 protein with the bestrophin paralogs: BEST2, BEST3, and BEST4. Alignments are zoomed into the relevant region. The amino- acids affected by a mutation are shown in red. The stars indicate 100% conservation.