Table 3 of Dubey, Mol Vis 2015; 21:88-97.

Table 3. Predicted consequences of mutations identified at splice junctions.

S.N Mutation MaxEntScan [scale 0–12, WT:Mut (% diff)] NNSPLICE
[scale 0–1, WT:Mut (% diff)] GeneSplicer
[scale 0–15,
WT:Mut (% diff)] HSF
[scale 0–100, WT:Mut (% diff)]
1 c.10+1G>A 9.5:0 (−100%) 1.0:0 (−100%) 9.2:0 (−100%) 83.7:0 (−100%)
2 c.141G>A 4.3:0 (−100%) 0.32:0.005(−98.5%) 7.4:1.5 (−79.4%) 84.3:73.8 (−12.5%)
3 c.141+4A>G 4.3:1.1 (−75.0%) 0.3:0.05 (−84.6%) 7.4:2.2 (−69.6%) 84.3:76.0 (−9.9%)
4 c.764A>G 10.1:5.4 (−45.9%) 0.9:0.5 (−44.7%) 4.2:0.5 (−87.2%) 77.2:72.4 (−6.3%)

MaxEntScan, maximum entropy modeling of short sequence motifs; NNSPLICE, neural network splice site analysis; HSF, human splicing finder; WT:Mut, the ratio of scores between wild-type and mutant alleles; % diff, the percentage difference between the wild-type and mutant allele score.

Dubey, Mol Vis 2015; 21:88-97. http://www.molvis.org/molvis/v21/88

©2015 Molecular Vision http://www.molvis.org/molvis/

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