Thirty-eight NF1 recurrent mutations in 85 independent NF1 patients
| Mutation | mRNA level | No Pat (F/S)* | References† |
|---|---|---|---|
| *Pat, patient; F, familial case; S, sporadic case; ss, splice site; inact, inactivation. | |||
| †This mutation has also been described by: A: Abernathy et al, 199420; C: Cawthon et al, 199021; E: Estivill et al, 199122; F: Fashold et al, 20007; G: Girondon-Boulandet et al, 200023; H: Hoffmeyer et al, 199811; Ha: Han et al, 200124; Ho: reported by Horiuchi to the NNFF Consortium; K: Kluwe et al, 200225; L: Lázaro et al, 199526; M: Messiaen et al, 20008; O: Osborn and Upadhyaya 199927; P: Purandare et al, 199528; Pa: Park et al, 199832; Pe: Peters et al, 199929; Per: Perrin et al, 199630; R: Robinson et al, 199531; T: Toliat et al, 2000.12 | |||
| IVS4b+5G>A | Inact 5` ss / skipping E 4b | 2 (1F, 1S) | – |
| 499-502delTGTT | 499-502delUGUU | 3 (3S) | F, Ha, T |
| IVS6+1G>A | Inact 5` ss / cryptic 5` ss / 888ins60 | 1 (S) | F |
| 910C>T (R304X) | Skipping E 7 | 7 (2F, 5S) | F, H, M, |
| 1019-1020delCT | 1019-1020delCU | 1 (S) | F |
| IVS8+1G>A | Inact 5` ss / skipping E 8 | 1 (S) | F |
| 1466A>G (Y489C) | Cryptic 5` ss / 1466del62 | 4 (1F, 3S) | F, M, O |
| 1541-1542delAG | 1541-1542delAG | 4 (4S) | F, O |
| IVS11+3A>G | Inact 5` ss / skipping E 11 | 2 (S) | F |
| 1756-1759delACTA | 1756-1759delACUA | 1 (S) | Pa |
| 1885G>A (G629R) | Inact 3` ss / cryptic 3` ss / 1846-1887del41 | 5 (2F + 3S) | – |
| 2041C>T (R681X) | 2041C>U | 3 (2F, 1S) | F |
| 2350T>C (W2350R) | 2350U>C | 1 (S) | K |
| IVS15-16A>G | Cryptic 3` ss / 2409ins15 | 4 (2F, 2S) | – |
| 2970-2972delAAT | 2970-2972delAAU | 1 (S) | F, M |
| IVS18+1G>A | Inact 5` ss / skipping E 18 | 1 (S) | P, K |
| 3277G>A (V1093M) | Cryptic 5`ss /3275-3314del40 | 1 (S) | M |
| 3456-3459delACTC | 3456-3459delACUC | 3 (3S) | F, O |
| 3525-3526delAA | 3525-3526delAA | 3 (2F, 1S) | F |
| 3822-3823delCT | 3822-3823delCU | 1 (S) | F |
| IVS23.1-2A>G | 3975-3979delGUUAG | 1 (F) | F |
| 4267A>G (K1423E) | 4267A>G | 1 (S) | K |
| 4274T>C (L1425P) | 4274U>C | 1 (F) | F, Pe |
| 4426delT | 4426delU | 1 (S) | Ho |
| 4537C>T (R1513X) | 4537C>U | 1 (F) | F, M |
| 5242C>T (R1748X) | 5242C>U | 1 (S) | F |
| 5546G>A (R1849Q) | Inact 5` ss / skipping E 29 | 5 (2F, 3S) | F, M |
| IVS28-2A>G | Inact 3` ss / skipping E 29 | 1 (S) | G |
| IVS29+1G>A | Inact 5` ss / skipping E 29 | 1 (S) | F |
| IVS30+332A>G | Cryptic 5` ss / 5749ins177 | 3 (1F, 2S) | O, Per |
| 5839C>T (R1947X) | 5839C>U | 4 (1F, 3S) | C, E, F, L, M |
| 6792C>A (Y2264X) | Skipping E 37 | 6 (2F, 4S) | F, H, M, R |
| 6792insA | Skipping E 37 | 2 (2S) | F |
| 7096-7101delAACTTT | 7096-7101delAACUUU | 3 (2F, 1S) | M, A |
| 7267insA | 7267insA | 1 (F) | O |
| 7702C>T (Q2568X) | 7702C>U | 1 (F) | F |
| IVS45+790C>G | 7907ins70 | 2 (2S) | – |
| 8040delT | 8040delU | 1 (F) | Ho |