Figure 6. In silico analysis of the splice donor site mutation in
TULP1. The
HSF3 algorithm predicted a consensus value (CV) of
A) 82.12 for the wild-type (c.1495+4A) and
B) 73.32 (c.1495+4C) for the mutant splice donor site. The CV deviation of −10.72 suggests that the loss of the wild-type splice
site will result in the retention of intron 14 of
TULP1, resulting in a frame shift likely to produce aberrant TULP1 (p.P499Rfs104*).