Fig. 3

Analysis of potential functions of the HFM1 mutation. (a) Schematic diagram of the location of the HFM1 mutation with regard to exons and introns. The missense mutation in HFM1 (c.3470G > A) is located at the third-to-last base of exon 31. (b) The underlined sequences were analyzed, and possible changes in splice sites were predicted with HSF. (c) Differences in confidence scores before vs. after mutation as determined with Splice Site Prediction by Neural Network