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. 2013 Jun 14;8(6):e66863. doi: 10.1371/journal.pone.0066863

Figure 6.

Figure 6

Genetic analysis of the CIPA family: (A) pedigree of the family. (B) Chromosome karyotype analysis was normal. (C) Sequencing chromatographs of genomic DNA from the proband and his parent are shown and reveal double heterozygous missense mutations- c.1561T>C in exon 13 and c.2057 G>A in exon 15 of the NTRK1 gene in the proband. Mutation-c.1561T>C was found in the proband's father, and mutation- c.2057 G>A was found in his mother. (D) Multiple sequence alignment: F521 and R686 of human NTRK1, indicated by the red frame and blue frame respectively, are evolutionarily conserved as shown in four representative species. The crystal structure of amino acids 497–795 of the human NTRK1, located in the catalytic domain, is shown in green ribbons. Two mutated p.F521L (in red) and p.R686H (in blue) are all labeled.