Figure 2
From: Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis
(a) Partial sequence chromatograms of exons 17 and 19 of CLCN7 in a patient and both parents. The nucleotide and corresponding amino acid sequences of the wild-type and mutant CLCN7 genes are also shown. (b) Multiple amino acid sequence alignment of the CLCN7 orthologous proteins from different metazoan species around the mutated amino acid. Arrowheads denote the mutated amino acid. Amino acids matching those in Homo sapiens are shaded.
