From: Functional analysis of splicing mutations in exon 7 of NF1gene
Mutation | SRp40(1) Threshold: 2.670 | Â | SRp40(2) Threshold: 2.670 | Â | SC35 Threshold: 2.383 | Â | SF2/ASF Threshold: 1.956 | Â |
---|---|---|---|---|---|---|---|---|
Ex7 WT | 3,009308 | Â | - | Â | 2,855838 | Â | 2,825583 | Â |
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 | Â | 3,455269 | + | 2,855838 | Â | 2,825583 | Â |