Figure 2 of Kaur, Mol Vis 2009; 15:1366-1373.


Figure 2. Direct sequencing analysis of the coding region of FOXC1. A: The lower sequence shows the heterozygous missense mutation c889C_T (p.Pro297Ser) identified in two individuals, and the upper sequence is the corresponding wild-type sequence. B: The lower sequence shows the heterozygous missense mutation c.1103C_A (p.Thr368Asn) detected in one individual, and the upper sequence is the corresponding wild-type sequence. C: The bottom sequence shows the 3-bp heterozygous insertion mutation, c.1142_1144insGCG (p.Gly380ins), detected in 37 individuals. The middle sequence shows the equivalent homozygous insertion detected in seven individuals. The upper sequence displays the corresponding wild-type sequence. D: The lower sequence shows the 9-bp heterozygous deletion, c.91_100delCGGCGGCCG (p.Ala31_33del), detected in the proband, mother, maternal grandfather, and 1 of the 307 control samples, and the upper sequence displays the corresponding wild-type sequence.