Figure 8 of
Riveiro-Alvarez, Mol Vis 2005;
11:705-712.
Figure 8. Normal and mutated sequences from Family 4
The mutated sequence (right) shows a C->T change at nucleotide 529, where arginine is replaced by cysteine at codon 38 (R38C [529 C->T]). This mutation occurred at a CG dinucleotide.