Figure 2 of Zenteno, Mol Vis 2009; 15:1794-1798.


Figure 2. MFRP gene mutations in Retinitis pigmentosa-nanophthalmos complex. A: Partial nucleotidic sequence of MFRP exon 5 in DNA from patient # 1 shows a heterozygous 1 bp deletion (c.498delC), which predicts a prematurely truncated protein (p.Asn167ThrfsX25). Compare this illustration with the normal sequence shown in B in which arrow points to the deleted nucleotide. C: Partial DNA sequence of MFRP exon 8 shows a heterozygous point mutation from C to A (arrow), predicting a nonsense change from tyrosine (TAC) to a stop signal (TAA), at codon 317.