Supplementary Figure 2: Multiple protein sequence alignments around the KCNH1 and ATP6V1B2 amino acid substitutions from different species.
From: Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
Alignment of the regions flanking the detected missense variants in orthologous proteins, showing the evolutionary conservation of amino acids S325, G348, L352, V356, I467 and G469 in human KCNH1 (NP_002229.1) and of R485 in human ATP6V1B2 (NP_001684.2). Multiple alignments were gathered from http://www.ncbi.nlm.nih.gov/homologene/. Conserved residues have a red background, and non-conserved residues have a gray background. Amino acid sequence alignments demonstrate high (S325 and V356 in human KCNH1) or complete (G348, L352, I467 and G469 in human KCNH1 and R485 in human ATP6V1B2) evolutionary conservation of the altered residues.
