Figure 1. Missense variations identified in this cohort, and conservation of involved amino-acid among species. Electropherograms showing the c.128C>G (p.Pro43Arg; A) and the c.776C>A (p.Pro259Gln; B) LHX2 variations. Alignment of part of LHX2 proteins from human, mouse, Xenopus and zebrafish, showing conservation of proline 43 (C, boxed) in these species, and absence of proline 259 conservation (D, boxed), which is replaced by a glutamine in Xenopus and zebrafish.