Figure 5 of Panagiotou, Mol Vis 2022; 28:57-69.


Figure 5. Diagrammatic representation of the SIX6 genomic structure (GRCh37.hg19) and the 246 amino acid translated protein (NP_031400.2) with human mutations depicted. Note that the positions of the transactivation (SIX1_SD) and the homeobox (HOX) domains are shown. The positions of the SIX6 mutations identified in recessive disease to date are also identified. The value of n denotes the number of related patients with that mutation, and the references that report the mutations are in superscript, with # indicating novel mutations identified in this report.