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. 2012 Dec 31;7(12):e52635. doi: 10.1371/journal.pone.0052635

Figure 7. Analysis of the c.1081+5G<T intronic mutation using ME and NN programs.

Figure 7

A) Numerical result produced by the ME program. Three nucleotides in uppercase correspond to exon 2, in blue intron 2. The normal and changed alleles in position +5 (c.1081+5G>C) are highlighted in yellow. The predicted number for the mutant allele falls four points, which could alter the entropy. B) Analysis of c.1081+5G<T intronic mutation with NN program. Exon 2 (181 nucleotides), intron 2 (360) and exon 3 (143) were represented. The nucleotides in uppercase correspond to exon 2 and exon 3, in blue intron 2. For the normal allele: the site of splice original is highlighted in yellow. For the mutated allele: the change from g to c seems to produce the loss of the normal recognition splice site and there is an 89% chance to recognize a cryptic donor splice site located within exon 2. This sequence is highlighted in yellow.