Description of the mutations of NF2 (NM_000268) Mutants
Keys for Mutation Description
A.A. substitution
Truncation
NT deletion
NT insertion
Truncation
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
| SKU | Mutation Description | Affected Codon# | Affected NT# | Description | Effect |
| RC401909 | Q18X | 18 | 52 | C>T | Neurofibromosis 2 |
| RC401910 | K20X | 20 | 58 | A>T | Neurofibromosis 2 |
| RC401911 | E34X | 34 | 100 | G>T | Neurofibromosis 2 |
| RC401912 | N36S | 36 | 107 | A>G | Neurofibromosis 2 |
| RC401913 | C37X | 37 | 111 | C>A | Neurofibromosis 2 |
| RC401914 | E38X | 38 | 112 | G>T | Neurofibromosis 2 |
| RC401915 | W41X | 41 | 122 | G>A | Neurofibromosis 2 |
| RC401916 | R57X | 57 | 169 | C>T | Neurofibromosis 2 |
| RC401917 | W60X | 60 | 179 | G>A | Neurofibromosis 2 |
| RC401918 | F62S | 62 | 185 | T>C | Neurofibromosis 2 |
| RC401919 | L64P | 64 | 191 | T>C | Neurofibromosis 2 |
| RC401920 | Q65X | 65 | 193 | C>T | Neurofibromosis 2 |
| RC401921 | W74X | 74 | 222 | G>A | Neurofibromosis 2 |
| RC401922 | M77V | 77 | 229 | A>G | Neurofibromosis 2 |
| RC401923 | E89X | 89 | 265 | G>T | Neurofibromosis 2 |
| RC401924 | K99X | 99 | 295 | A>T | Neurofibromosis 2 |
| RC401925 | E106G | 106 | 317 | A>G | Neurofibromosis 2 |
| RC401926 | Q111X | 111 | 331 | C>T | Neurofibromosis 2 |
| RC401927 | Q115X | 115 | 343 | C>T | Neurofibromosis 2 |
| RC401928 | K123X | 123 | 367 | A>T | Neurofibromosis 2 |
| RC401929 | L141P | 141 | 422 | T>C | Neurofibromosis 2 |
| RC401930 | Y144X | 144 | 432 | C>A | Neurofibromosis 2 |
| RC401931 | Y144X | 144 | 432 | C>G | Neurofibromosis 2 |
| RC401932 | Y153X | 153 | 459 | C>A | Neurofibromosis 2 |
| RC401933 | Y153X | 153 | 459 | C>G | Neurofibromosis 2 |
| RC401934 | Q165X | 165 | 493 | C>T | Neurofibromosis 2 |
| RC401935 | Y177X | 177 | 531 | T>A | Neurofibromosis 2 |
| RC401936 | E182X | 182 | 544 | G>T | Neurofibromosis 2 |
| RC401937 | W184X | 184 | 552 | G>A | Neurofibromosis 2 |
| RC401938 | W184X | 184 | 551 | G>A | Neurofibromosis 2 |
| RC401939 | W191X | 191 | 572 | G>A | Neurofibromosis 2 |
| RC401940 | Y192X | 192 | 576 | C>G | Neurofibromosis 2 |
| RC401941 | R196X | 196 | 586 | C>T | Neurofibromosis 2 |
| RC401942 | G197C | 197 | 589 | G>T | Neurofibromosis 2 |
| RC401943 | R198X | 198 | 592 | C>T | Neurofibromosis 2 |
| RC401944 | M205V | 205 | 613 | A>G | Neurofibromosis 2 |
| RC401945 | N220Y | 220 | 658 | A>T | Neurofibromosis 2 |
| RC401946 | Y221X | 221 | 663 | C>G | Neurofibromosis 2 |
| RC401947 | L234R | 234 | 701 | T>G | Neurofibromosis 2 |
| RC401948 | W258X | 258 | 774 | G>A | Neurofibromosis 2 |
| RC401949 | W258X | 258 | 773 | G>A | Neurofibromosis 2 |
| RC401950 | R262X | 262 | 784 | C>T | Neurofibromosis 2 |
| RC401951 | K269X | 269 | 805 | A>T | Neurofibromosis 2 |
| RC401952 | L316F | 316 | 948 | G>C | Neurofibromosis 2 |
| RC401953 | L316W | 316 | 947 | T>G | Neurofibromosis 2 |
| RC401954 | E317X | 317 | 949 | G>T | Neurofibromosis 2 |
| RC401955 | Q320X | 320 | 958 | C>T | Neurofibromosis 2 |
| RC401956 | Q324X | 324 | 970 | C>T | Neurofibromosis 2 |
| RC401957 | Q333X | 333 | 997 | C>T | Neurofibromosis 2 |
| RC401958 | R341X | 341 | 1021 | C>T | Neurofibromosis 2 |
| RC401959 | Q344X | 344 | 1030 | C>T | Neurofibromosis 2 |
| RC401960 | T352M | 352 | 1055 | C>T | Neurofibromosis 2 |
| RC401961 | E357X | 357 | 1069 | G>T | Neurofibromosis 2 |
| RC401962 | L360P | 360 | 1079 | T>C | Neurofibromosis 2 |
| RC401963 | Q362X | 362 | 1084 | C>T | Neurofibromosis 2 |
| RC401964 | E366X | 366 | 1096 | G>T | Neurofibromosis 2 |
| RC401965 | E372X | 372 | 1114 | G>T | Neurofibromosis 2 |
| RC401966 | E379X | 379 | 1135 | G>T | Neurofibromosis 2 |
| RC401967 | Q389X | 389 | 1165 | C>T | Neurofibromosis 2 |
| RC401968 | E394X | 394 | 1180 | G>T | Neurofibromosis 2 |
| RC401969 | Q400X | 400 | 1198 | C>T | Neurofibromosis 2 |
| RC401970 | Q407X | 407 | 1219 | C>T | Neurofibromosis 2 |
| RC401971 | Q410X | 410 | 1228 | C>T | Neurofibromosis 2 |
| RC401972 | K413E | 413 | 1237 | A>G | Neurofibromosis 2 |
| RC401973 | R418C | 418 | 1252 | C>T | Neurofibromosis 2 |
| RC401974 | E427X | 427 | 1279 | G>T | Neurofibromosis 2 |
| RC401975 | Q428X | 428 | 1282 | C>T | Neurofibromosis 2 |
| RC401976 | Q453X | 453 | 1357 | C>T | Neurofibromosis 2 |
| RC401977 | Q456X | 456 | 1366 | C>T | Neurofibromosis 2 |
| RC401978 | Q459X | 459 | 1375 | C>T | Neurofibromosis 2 |
| RC401979 | E463X | 463 | 1387 | G>T | Neurofibromosis 2 |
| RC401980 | E465X | 465 | 1393 | G>T | Neurofibromosis 2 |
| RC401981 | R466X | 466 | 1396 | C>T | Neurofibromosis 2 |
| RC401982 | Q470X | 470 | 1408 | C>T | Neurofibromosis 2 |
| RC401983 | Y481X | 481 | 1443 | C>G | Neurofibromosis 2 |
| RC401984 | S497T | 497 | 1490 | G>C | Neurofibromosis 2 |
| RC401985 | M514V | 514 | 1540 | A>G | Neurofibromosis 2 |
| RC401986 | L517P | 517 | 1550 | T>C | Neurofibromosis 2 |
| RC401987 | E527X | 527 | 1579 | G>T | Neurofibromosis 2 |
| RC401988 | K533T | 533 | 1598 | A>C | Neurofibromosis 2 |
| RC401989 | L535P | 535 | 1604 | T>C | Neurofibromosis 2 |
| RC401990 | Q536X | 536 | 1606 | C>T | Neurofibromosis 2 |
| RC401991 | Q538P | 538 | 1613 | A>C | Neurofibromosis 2 |
| RC401992 | Q538X | 538 | 1612 | C>T | Neurofibromosis 2 |
| RC401993 | L539H | 539 | 1616 | T>A | Neurofibromosis 2 |
| RC401994 | L542H | 542 | 1625 | T>A | Neurofibromosis 2 |
| RC401995 | K579M | 579 | 1736 | A>T | Neurofibromosis 2 |
