NF2 mutations identified in 45 patients with NF2 presenting with unilateral vestibular schwannoma
| Individual mutation | Exon | UVS/ BVS | |
|---|---|---|---|
| Nonsense mutations: | |||
| S5 | G100>T, Glu34>stop | 1 | UVS |
| S9 | C784>T, Arg262>stop | 8 (mosaic) | UVS |
| S24 | C169>T, Arg57>stop | 2 | BVS |
| S31 | C1612>T, Gln538>stop | 15 | BVS |
| P3 | G1570>T, Glu524>stop | 14 | BVS |
| P5 | C1408>T, Gln470>stop | 13 | BVS |
| P6 | C784>T, Arg262>stop | 8 (mosaic) | BVS |
| C4 | G1570>T, Glu524>stop | 14 | BVS |
| Frameshifting deletions: | |||
| S7 | 40 delCT | 1 | BVS |
| C7 | 855 delT | 9 | BVS |
| Frameshifting insertions: | |||
| S11 | 1191 insT | 12 | UVS |
| Missense: | |||
| S12 | A317>G, Glu106>Gly | 3 | UVS |
| P4 | C1055>T, Thr352>Met | 11 | BVS |
| C2 | T1604>C, Leu535>Pro | 15 | UVS |
| Splice site: | |||
| P1 | 516+1G>A | 5 | BVS |
| C1 | 676−7T>G | 8 | UVS |
BVS=Bilateral vestibnular schwannoma; UVS=unilateral vestibnular schwannoma.