Figure 1 of Shi, Mol Vis 2008; 14:1850-1855.


Figure 1. Distribution of variants in HSF4. Mutations reported in this study are highlighted in red; previously reported mutations are highlighted in black. A: HSF4 structure is shown in the diagram with the locations of the mutations labeled. B: Genomic DNA sequence electropherograms of the two new missense mutations are shown. Left panel, sequence electropherograms from an affected patient heterozygous for the c.1078A>G mutation resulting in a p.Gln61>Arg substitution; right panel, sequence electropherograms from an affected patient heterozygous for the c.1243G>A mutation resulting in a p.Arg116>His substitution. C: HSF4 sequence alignment and reported mutations in this study are given and highlighted.