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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.