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Table 2 Prediction of the effects of the c.1958G > C mutation on splicing

From: Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis

Allele

Splice prediction1

ESE score for SC352

Wild type (G)

0.91

4.595

Mutant type (C)

< 0.01

-3

  1. 1Predicted by the Berkeley Drosophila Genome Project (BDGP) splice prediction program.
  2. 2Exonic splicing enhancer (ESE) score as predicted by ESEfinder. Its threshold score for SC35 protein is 2.383.
  3. 3Below the threshold score.