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.