Figure 4: Sanger sequencing and protein conservation analysis of VPS16 and SIGLEC1 variants.

(a) Sequencing chromatograms are shown. Affected codons are framed in black, and variants found in individuals are indicated by arrows. (b) Protein alignment of VPS16 and SIGLEC1 variants from seven different vertebrate species using ClustalW. Altered Amino acid are indicated on the top panel, whereas Refseq residues are framed in red and indicated by arrows.