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Table 2 ESE Finder results for NF1 exon 7 mutations.

From: Functional analysis of splicing mutations in exon 7 of NF1gene

Mutation

SRp40(1) Threshold: 2.670

 

SRp40(2) Threshold: 2.670

 

SC35 Threshold: 2.383

 

SF2/ASF Threshold: 1.956

 

Ex7 WT

3,009308

 

-

 

2,855838

 

2,825583

 

Ex7 c.910C>T (R304X)

3,366003

↑

-

 

2,855838

 

2,825583

 

Ex7 c.945G>A (Q315Q)

3,009308

 

-

 

3,281102

↑

Below Thr

↓

Ex7 c.946C>A (L316M)

3,009308

 

-

 

Below Thr

↓

3,819131

↑

Ex7 Q315Q+L316M

3,009308

 

-

 

Below Thr

↓

Below Thr

↓

Ex7 c.1005T>C (N335N)

3,009308

 

3,455269

+

2,855838

 

2,825583

 
  1. SRp40, SC35 and SF2/ASF are four human SR proteins linked to ESE sequences. ↑ indicates an increased score compared to the threshold value. ↓ indicates a score below the threshold value. + indicates the gain of a SR protein binding site.