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. Author manuscript; available in PMC: 2012 Aug 1.
Published in final edited form as: Genes Chromosomes Cancer. 2011 May 11;50(8):571–584. doi: 10.1002/gcc.20876

Figure 9.

Figure 9

[Figure 7]:Sequence walker analysis of the genomic sequence of human NF2 near the beginning of exon 13. Exon 13 is shown in the same manner as Exon 12 above. The native exon starts at location 79307 and is initiated by an acceptor site of strength 14.0 bits. Although the mutations are in the generally accepted dinucleotide acceptor site, they do not inactivate the native acceptor.

[Figure 7A]: The IVS12–2 A>C (a79305c) mutation weakens this site significantly, but leaves it functional. Two cryptic acceptor sites are created, 1 and 8 bp downstream of the native, that are strong enough to be functional. An exon was found that did have the eight nucleotides deleted. The one nucleotide deletion was probably below the detection capabilities of the transcript analysis.