Figure 2 of Orr, Mol Vis 2011; 17:1850-1861.


Figure 2. Linkage and mutation analysis. A: Multipoint heterogeneity LOD score for families. B-F: Sequence chromatograms for putative causal mutations in PRSS56 in families 1, 2 and 3. In each panel, upper to lower tracks contain translation of coding exon in consensus and mutated sequences; virtual chromatogram of consensus genomic sequence forward direction (generated by software from text sequence); sequence chromatogram of affected patient reverse direction; virtual chromatogram of consensus genomic sequence reverse direction. Red arrows point to mutations in patient samples. B: p.G320R homozygous in affected patient from family 1. C: p V302F heterozygous in affected patient from family 2. D: c.828_833 het_ insG heterozygous in affected patient from family 2. E: p.G237R heterozygous in affected patient from family 3. F: p.C395P heterozygous in affected patient from family 3.