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. 2009 Aug 10;119(9):2623–2633. doi: 10.1172/JCI38660

Figure 1. Mutations in PTRF.

Figure 1

(A) All 5 patients had a homozygous or compound heterozygous mutation in PTRF (shown by arrows). P1–P4 had the same homozygous insertion mutation of c.696_697insC (InsC) in exon 2, whereas P5 had a compound heterozygous mutation of the same c.696_697insC insertion mutation and a deletion mutation of c.525delG (DelG) in exon 2. (B) Schema of the position of mutations in PTRF, putative proteins produced by mutations, and antibody recognition sites. The c.525delG mutant changes the last 275 amino acids to an unrelated 98–amino acid sequence, while the c.696_697insC mutant substitutes the last 158 amino acids with an unrelated 191–amino acid sequence.