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Table 4 Splice site prediction for splice donor variant c.1083G>A

From: Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Program

wild type score

mutant score

NNSplice 0.9 [34]

0.99

0.6

HSF V2.4 [35]

91.56

80.98

MaxEntScan [36]

  

Maximum Entropy Model

8.37

3.38

Maximum Dependence Decomposition Model

11.88

9.78

First-order Markov Model

7.5

3.88

Weight Matrix Model

8.9

5.73

Splice Site Score Calculation [37]

8.1

5.2

Splice Site Analyzer-Tool [38]

83.27

ΔG -7.1

71.36

ΔG -4

Splice Predictor [39]

0.967

splice site not recognized

NetGene2 [40]

0.95

0.55

SplicePort [41]

1.06619

0.26169