|
Fig. 1 Pedigrees, variant localization and evolutionary conservation of missense changes in VWA1. (A) Pedigrees of the 15 families described here with predicted protein consequences of variants and the segregations pattern, where known. NA = DNA not available for testing. Filled symbols indicate early onset motor axonal neuropathy. Grey shading in Family 11 indicates a neurological presentation consistent with the observed duplication of 16p13.2. Genotype in younger twin in Family 12 was inferred because of monozygosity. (B) Schematic diagram showing the position of the variants identified in this study in relation to the protein domains in VWA1. The VWFA domain is shown in green whilst the two fibronectin type-III domains are shown in black. Figure is based on coordinates as listed in entry Q6PCB0 of the UniProt database (www.uniprot.org). (C) Evolutionary conservation of amino-acids in VWA1 orthologues at p.Ser74 and p.Asn364, the two sites where missense changes were identified.