Figure 3
From: Correlations of FRMD7 gene mutations with ocular oscillations
FRMD7 mutation and waveforms recorded in two families. The probands in families A and B (denoted by the black arrows) carried the same mutation of c.773 T > C (p.M258T) in exon 9 (C). Nystagmus was recorded as horizontal pendular waveforms from the proband (D, middle panel), and as decelerating exponential slow phase jerk waveforms from his mother (D, upper panel) in the Family A. As a control, his father had normal eye movement recordings (D, lower panel). The proband in Family B showed horizontal decelerating exponential slow phase jerk waveforms (E, middle panel), and his mother had horizontal dual jerk waveforms (E, upper panel), compared with his father (E, lower panel). A 3-D model construction showed a wild-type nonpolar amino acid of Methionine (F) was replaced by a charged and polar amino acid of Threonine (G), which would damage the stability of the protein structure and function.
