Table 2.

ESE Finder results for NF1 exon 7 mutations.

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

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.