One hundred and forty-two different NF1 mutations and their effect on mRNA in 189 independent NF1 patients
| Mutation | E/I | mRNA level | Type/effect | Protein (aa) | No Pat (F/S)* |
|---|---|---|---|---|---|
| *Pat, patient; F, familial case, S, sporadic case. | |||||
| E, exon; I, intron; inact, inactivation; TRUNC, truncated protein; IF, in frame; ss, splice site. | |||||
| 89-101del13 | E 2 | 89-101del13 | Frameshift | 38 / TRUNC | 1S |
| IVS2+1G/A | I 2 | Skipping E 2 | Splice | 2770 / IF (−48) | 1S |
| IVS3+4insG | I 3 | Skipping E 3 | Splice | 2790 / IF (−28) | 1S |
| 347delA | E 4a | 347delA | Frameshift | 163 / TRUNC | 1S |
| 350T>G (I117S) | E 4a | 350U>G | Missense | 2818 | 1F |
| 413-414insCT | E 4a | 413-414insCU | Frameshift | 164 / TRUNC | 1F |
| 446delA | E 4a | 446delA | Frameshift | 163 / TRUNC | 1S |
| 499-502delTGTT | E 4b | 499-502delUGUU | Frameshift | 175 / TRUNC | 3 (3S) |
| 527-528delAT | E 4b | 527-528delAU | Frameshift | 198 / TRUNC | 1S |
| 550delA | E 4b | 550delA | Frameshift | 189 / TRUNC | 1S |
| 580delC | E 4b | 580delC | Frameshift | 203 / TRUNC | 1S |
| IVS4b+5G>A | I 4b | Inact 5` ss/skipping E 4b | Splice | 163 / TRUNC | 2 (1F, 1S) |
| 686delA | E 5 | 686delA | Frameshift | 279 / TRUNC | 1S |
| 717insTCCCACAG | E 5 | 717insUCCCACAG | Frameshift | 282 / TRUNC | 1S |
| 723insA | E 5 | 723insA | Frameshift | 243 / TRUNC | 1S |
| 878delA | E 6 | 878delA | Frameshift | 293 / TRUNC | 1S |
| IVS6+1G>A | I 6 | Inact 5` ss/cryptic 5` ss/ 888ins60 | Splice | 2838 / IF (+20) | 1F |
| 910C>T (R304X) | E 7 | Skipping E 7 | Nonsense/splice | 2760 / IF (−58) | 7 (2F, 5S) |
| 979delC>TT | E 7 | 979delC>UU | Frameshift | 328 / TRUNC | 1S |
| 989insC | E 7 | 989insC | Frameshift | 338 / TRUNC | 1S |
| 998insA | E 7 | 998insA | Frameshift | 332 / TRUNC | 1S |
| 999delC | E 7 | 999delC | Frameshift | 332 / TRUNC | 1F |
| 1019insT | E 7 | 1019insU | Frameshift | 352 / TRUNC | 1F |
| 1019-1020delCT | E 7 | 1019-1020delCU | Frameshift | 350 / TRUNC | 1S |
| 1021-1031del11 | E 7 | 1021-1031del11 | Frameshift | 347 / TRUNC | 1S |
| IVS7+1G>A | I 7 | Skipping E 7 | Splice | 2760 / IF (−58) | 1S |
| IVS8+1G>A | I 8 | Inact 5` ss/skipping E 8 | Splice | 2777 / IF (−41) | 1S |
| IVS8-1del15 | I 8 | Inact 3` ss/skipping E 9 | Splice | 2793/ IF (−25) | 1F |
| IVS9+5G>C | I 9 | Inact 5` ss/cryptic 5` ss/1260ins13 | Splice | 431 / TRUNC | 1S |
| IVS9-2A>C | E 10a | 1261del24 | Splice | 2810 / IF (−8) | 1S |
| IVS10a-9T>A | I 10a | Inact 3` ss/cryptic 3` ss/1392insUUUUUAG | Splice | 470 / TRUNC | 1F |
| 1399insA | E 10b | 1399insA | Frameshift | 468 / TRUNC | 1F |
| 1411A>T (K469X) | E 10b | 1411A>U | Nonsense | 468 / TRUNC | 1S |
| 1414delG | E 10b | 1414delG | Frameshift | 471 / TRUNC | 1F |
| 1465insT | E 10b | 1465insU | Frameshift | 489 / TRUNC | 1S |
| 1466A>G (Y489C) | E 10b | Cryptic 5` ss/1466del62 | Missense/splice | 488 / TRUNC | 4 (1F, 3S) |
| IVS10b+1G>A | I 10b | Inact 5` ss/skipping E 10b | Splice | 2773 / IF (−45) | 1S |
| IVS10b+4delAGTA | I 10b | Inact 5` ss/skipping E 10b | Splice | 2773 / IF (−45) | 1F |
| IVS10b+5insA | I 10b | Inact 5` ss/skipping E 10b | Splice | 2773 / IF (−45) | 1S |
| 1541-1542delAG | E 10c | 1541-1542delAG | Frameshift | 555 / TRUNC | 4 (4S) |
| IVS10c-2A>G | I 10c | Inact 3` ss/skipping E 11 | Splice | 559 / TRUNC | 1S |
| 1677delT | E 11 | 1677delU | Frameshift | 566 / TRUNC | 1S |
| IVS11+3A>G | I 11 | Inact 5` ss/skipping E 11 | Splice | 559 / TRUNC | 2 (S) |
| IVS11-3C>G | I 11 | Inact 3` ss/cryptic 3` ss/1721ins42 | Splice | 2832 / IF (+14) | 1F |
| 1756-1759delACTA | E 12a | 1756-1759delACUA | Frameshift | 602 / TRUNC | 1S |
| 1758-1759delTA | E 12a | 1758-1759delUA | Frameshift | 590 / TRUNC | 1S |
| 1797G>A (W599X) | E 12a | 1797G>A | Nonsense | 598 / TRUNC | 1S |
| 1885G>A (G629R) | E 12b | Inact 3` ss/cryptic 3` ss/1846-1887del41 | Missense/splice | 616 / TRUNC | 5 (2F + 3S) |
| 2041C>T (R681X) | E 13 | 2041C>U | Nonsense | 680 / TRUNC | 3 (2F, 1S) |
| 2076insTGTAC | E 13 | 2076insUGUAC | Frameshift | 748 / TRUNC | 1S |
| 2077-2078delAT | E 13 | 2077-2078delAU | Frameshift | 697 / TRUNC | 1S |
| 2173insT | E 13 | 2173insU | Frameshift | 729 / TRUNC | 1S |
| IVS13+2T>C | I 13 | Inact 5` ss/skipping E 13 | Splice | 679 / TRUNC | 1S |
| 2310-2314delTGCAG | E 14 | 2310-2314delUGCAG | Frameshift | 772 / TRUNC | 1S |
| 2350T>C (W784R) | E 15 | 2350U>C | Missense | 2818 | 1S |
| IVS15-12T>G | I 15 | Cryptic 3` ss/2409ins11 | Splice | 823 / TRUNC | 1S |
| IVS15-15A>G | I 15 | Cryptic 3` ss/2409-2410ins14 | Splice | 822 / TRUNC | 1F |
| IVS15-16A>G | I 15 | Cryptic 3` ss/2409ins15 | Splice | 807 / TRUNC | 4 (2F, 2S) |
| IVS15+2insT | I 15 | Inact 5` ss/skipping E 15 | Splice | 2790 / IF (−28) | 1F |
| 2764G>A (G922S) | E 16 | Cryptic 5` ss/2761del90 | Missense/splice | 2788 / IF (−30) | 1F |
| IVS16+1G>A | I 16 | Inact 5` ss/cryptic 5` ss/2617del233 | Splice | 876 / TRUNC | 1S |
| IVS16-1delGGTTT | I 16 | Inact 3` ss/skipping E 17 | Splice | 972 / TRUNC | 1S |
| 2942insGCTCTGA | E 17 | 2942insGCUCUGA | Frameshift | 982 / TRUNC | 1S |
| 2970-2971delAA | E 17 | 2970-2971delAA | Frameshift | 1018 / TRUNC | 1S |
| 2970-2972delAAT | E 17 | 2970-2972delAAU | Amino acid deletion | 2817 / IF (−1) | 1S |
| IVS17+2insT | I 17 | Inact 5` ss/skipping E 17 | Splice | 972 / TRUNC | 1S |
| IVS18+1G>T | I 18 | Inact 5` ss/skipping E 18 | Splice | 2777 / IF (−41) | 1S |
| IVS18+1G>A | I 18 | Inact 5` ss/skipping E 18 | Splice | 2777 / IF (−41) | 1S |
| IVS18+5G>C | I 18 | Inact 5` ss/skipping E 18 | Splice | 2777 / IF (−41) | 1F |
| IVS19a+1G>A | I 19a | Inact 5` ss/skipping E 19a | Splice | 2790 / IF (−28) | 1S |
| 3214-3224del11 | E 19b | Cryptic 5` ss/ 3211-3304del104 | Frameshift/splice | 1080 / TRUNC | 1S |
| 3239insT | E 19b | 3239insU | Frameshift | 1087 / TRUNC | 1S |
| 3277G>A (V1093M) | E 19b | Cryptic 5` ss/3275-3314del40 | Missense/splice | 1097 / TRUNC | 1S |
| 3394-3400delCGTGGCA | E 20 | 3394-3400delCGUGGCA | Frameshift | 1138 / TRUNC | 1S |
| 3403-3404delTC | E 20 | 3403-3404delUC | Frameshift | 1193 / TRUNC | 1S |
| 3419C>G (S1140X) | E 20 | 3419C>G | Nonsense | 1139 / TRUNC | 1S |
| 3427C>T (H1140Y) | E 20 | Cryptic 5` ss/3425del71 | Missense/splice | 1169 / TRUNC | 1S |
| 3456-3459delACTC | E 20 | 3456-3459delACUC | Frameshift | 1155 / TRUNC | 3 (3S) |
| 3509delA | E 21 | 3509delA | Frameshift | 1182 / TRUNC | 1S |
| 3525-3526delAA | E 21 | 3525-3526delAA | Frameshift | 1192 / TRUNC | 3 (2F, 1S) |
| 3538-3543delATGGAA+insG | E 21 | 3538-3543delAUGGAA+insG | Frameshift | 1191 / TRUNC | 1S |
| 3610C>T (R1204W) | E 21 | 3610C>U | Missense | 2818 | 1S |
| 3739-3742delTTTG | E 22 | 3739-3742delUUUG | Frameshift | 1263 / TRUNC | 1S |
| 3759-3763delCTACC | E 22 | 3759-3763delCUACC | Frameshift | 1260 / TRUNC | 1F |
| 3822-3823delCT | E 22 | 3822-3823delCU | Frameshift | 1281 / TRUNC | 1S |
| IVS22+1G>C | I 22 | 3844del26 | Splice | 1303 / TRUNC | 1S |
| IVS23.1-2A>G | I 23.1 | 3975-3979delGUUAG | Splice | 1330 / TRUNC | 1F |
| 4267A>G (K1423E) | E 24 | 4267A>G | Missense | 2818 | 1S |
| 4274T>C (L1425P) | E 25 | 4274U>C | Missense | 2818 | 1F |
| 4312-4314delGAA | E 25 | 4312-4314delGAA | Amino acid deletion | 2817 / IF (−1) | 1F |
| IVS25+1G>A | I 25 | Inact 5` ss/skipping E 25 | Splice | 1426 / TRUNC | 1S |
| 4426delT | E 26 | 4426delU | Frameshift | 1477 / TRUNC | 1S |
| 4493G>A (G1498E) | E 26 | 4493G>A | Missense | 2818 | 1F |
| 4537C>T (R1513X) | E 27a | 4537C>U | Nonsense | 1512 / TRUNC | 1F |
| 4568insC | E 27a | Inact 5` ss/skipping E 27a | Frameshift/splice | 2769 / IF (−49) | 1S |
| 4614-4615delGT | E 27a | 4614-4615delGU | Frameshift | 1552 / TRUNC | 1F |
| IVS27b+1del9 | I 27b | Inact 5` ss/cryptic 5`/4704del69 | Splice | 2795 / IF (−23) | 1F |
| 4829del15 | E28 | 4829del15 | Frameshift | 1616 / TRUNC | 1S |
| 5094-5095delAG | E28 | 5094-5095delAG | Frameshift | 1699 / TRUNC | 1F |
| 5194insA | E28 | 5194insA | Frameshift | 1734 / TRUNC | 1F |
| IVS28+1G>A | I 28 | Inact 5` ss/cryptic 5`/5152del54 | Splice | 2800 / IF (−18) | 1F |
| IVS28+5G>A | I 28 | Inact 5` ss/cryptic 5`/5152del54 | Splice | 2800 / IF (−18) | 1F |
| IVS28-2A>G | I 28 | Inact 3` ss/skipping E 29 | Splice | 1739 / TRUNC | 1S |
| 5242C>T (R1748X) | E 29 | 5242C>U | Nonsense | 1747 / TRUNC | 1S |
| 5303delA | E 29 | 5303delA | Frameshift | 1771 / TRUNC | 1S |
| 5351insC | E 29 | 5351insC | Frameshift | 1796 / TRUNC | 1F |
| 5460-5461delAC | E 29 | 5460-5461delAC | Frameshift | 1838 / TRUNC | 1F |
| 5486insC | E 29 | 5486insC | Frameshift | 1839 / TRUNC | 1S |
| 5546G>A (R1849Q) | E 29 | Inact 5` ss/skipping E 29 | Splice/missense | 1739 / TRUNC | 5 (2F, 3S) |
| IVS29+1G>A | I 29 | Inact 5` ss/skipping E 29 | Splice | 1739 / TRUNC | 1S |
| 5617-5632del16 | E 30 | 5617-5632del16 | Frameshift | 1897 / TRUNC | 1S |
| 5738insAT | E 30 | 5738insAU | Frameshift | 1920 / TRUNC | 1F |
| IVS30+332A>G | I 30 | Cryptic 5` ss/5749ins177 | Splice | 1927 / TRUNC | 3 (1F, 2S) |
| 5839C>T (R1947X) | E 31 | 5839C>U | Nonsense | 1946 / TRUNC | 4 (1F, 3S) |
| 5887delA | E 31 | 5887delA | Frameshift | 1989 / TRUNC | 1F |
| 6395-6404del10 | E 34 | 6395-6404del10 | Frameshift | 2174 / TRUNC | 1F |
| 6483C>G (Y2161X) | E 34 | Skipping E 34 | Nonsense/splice | 2160 / TRUNC | 1S |
| 6579-6580insGCAT | E 35 | 6579-6580insGCAU | Frameshift | 2221 / TRUNC | 1S |
| 6593insT | E 35 | 6593insU | Frameshift | 2219 / TRUNC | 1F |
| IVS35+2T>A | I 35 | Inact 5` ss/skipping E 35 | Splice | 2198 / TRUNC | 1S |
| 6649delT | E 36 | 6649delU | Frameshift | 2242 / TRUNC | 1F |
| 6724C>T (Q2242X) | E 36 | Skipping E 36 | Nonsense/splice | 2258 / TRUNC | 1S |
| IVS36+2T>A | I 36 | Skipping E 36 | Splice | 2220 / TRUNC | 1S |
| IVS36+3A>G | I 36 | Skipping E 36 | Splice | 2220 / TRUNC | 1F |
| 6792C>A (Y2264X) | E 37 | Skipping E 37 | Nonsense/splice | 2784 / IF (−34) | 6 (2F, 4S) |
| 6792insA | E 37 | Skipping E 37 | Frameshift/splice | 2784 / IF (−34) | 2 (2S) |
| IVS37+2T>G | I 37 | Inact. 5` ss/skipping E 37 | Splice | 2784 / IF (−34) | 1F |
| 7096-7101delAACTTT | E 39 | 7096-7101delAACUUU | Amino acid deletion | 2816 / IF (−2) | 3 (2F, 1S) |
| 7204-7205delCA | E 40 | 7204-7205delCA | Frameshift | 2404 / TRUNC | 1S |
| 7267insA | E 41 | 7267insA | Frameshift | 2425 / TRUNC | 1F |
| 7308insA | E 41 | 7308insA | Frameshift | 2436 / TRUNC | 1F |
| 7337delC | E 41 | 7337delC | Frameshift | 2466 / TRUNC | 1F |
| 7372delC | E 41 | 7372delC | Frameshift | 2466 / TRUNC | 1S |
| 7702C>T (Q2568X) | E 44 | 7702C>U | Nonsense | 2567 / TRUNC | 1F |
| 7719insA | E 44 | 7719insA | Frameshift | 2573 / TRUNC | 1S |
| 7720delA | E 44 | 7720delA | Frameshift | 2601 / TRUNC | 1S |
| IVS44+1G>T | I 44 | Inact 5` ss/skipping E 44 | Splice | 2567 / TRUNC | 1S |
| IVS45+790C>G | I 45 | 7907ins70 | Splice | 2637 / TRUNC | 2 (2S) |
| 8040delT | E 46 | 8040delU | Frameshift | 2716 / TRUNC | 1F |
| 8042insA | E 46 | 8042insA | Frameshift | 2680 / TRUNC | 1F |
| 8047C>T (E2683X) | E 46 | 8047C>U | Nonsense | 2682 / TRUNC | 1F |
| 8134-8135delAA | E 48 | 8134-8135delAA | Frameshift | 2713 / TRUNC | 1F |
| Non-NF1 associated variants identified | |||||
| 528T>A (D176E) | E 4b | 528T>A | Missense | 2818 | 1S |
| 3686A>G (N1229S) | E 21 | 3686A>G | Missense | 2818 | 1S |
| 5473C>T (R1825W) | E 29 | 5473C>U | Missense | 2818 | 1S |
| 5425C>T (R1809C) | E 29 | 5425C>U | Missense | 2818 | 1S |