Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function
Figure 2
(a) Chromatogram showing point mutations for patient 1–3. (b) The pedigrees show the occurrence of the disease phenotype and the inheritance of missense mutations in CACNB2. Circles and squares indicate females and males, respectively. Filled symbols denote diagnosis of autism; partially filled symbols denote individuals that are diagnosed within a broad spectrum of pervasive developmental disorders. (c) Alignments show conservation among different species for p.G167S, p.S197F and p.F240L suggesting an importance for the topology and function.