Description of the mutations of FH (NM_000143) 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 |
| RC401077 | Q47X | 47 | 139 | C>T | Muliple leiomyomosis |
| RC401078 | R101P | 101 | 302 | G>C | Muliple uneous nd uerine leiomyom syndrome |
| RC401079 | R101X | 101 | 301 | C>T | Muliple leiomyomosis |
| RC401080 | N107T | 107 | 320 | A>C | Muliple leiomyomosis |
| RC401081 | A117P | 117 | 349 | G>C | Muliple leiomyomosis |
| RC401082 | L132S | 132 | 395 | T>C | Leiomyomosis nd renl ell ner |
| RC401083 | H135R | 135 | 404 | A>G | Muliple uneous nd uerine leiomyom syndrome |
| RC401084 | Q142K | 142 | 424 | C>A | Cuneous leiomyomosis |
| RC401085 | S145X | 145 | 434 | C>G | Leiomyomosis nd renl ell ner |
| RC401086 | S158I | 158 | 473 | G>T | Muliple uneous nd uerine leiomyom syndrome |
| RC401087 | R160G | 160 | 478 | A>G | Leiomyomosis nd renl ell ner |
| RC401088 | P174R | 174 | 521 | C>G | Fumrse defiieny |
| RC401089 | H180R | 180 | 539 | A>G | Muliple leiomyomosis |
| RC401090 | Q185R | 185 | 554 | A>G | Muliple leiomyomosis |
| RC401091 | Q185X | 185 | 553 | C>T | Muliple uneous nd uerine leiomyom syndrome |
| RC401092 | S187L | 187 | 560 | C>T | Leiomyomosis nd renl ell ner |
| RC401093 | N188S | 188 | 563 | A>G | Leiomyomosis nd renl ell ner |
| RC401094 | P192L | 192 | 575 | C>T | Muliple uneous nd uerine leiomyom syndrome |
| RC401095 | M195T | 195 | 584 | T>C | Leiomyomosis nd renl ell ner |
| RC401096 | H196R | 196 | 587 | A>G | Muliple leiomyomosis |
| RC401097 | I229T | 229 | 686 | T>C | Muliple leiomyomosis |
| RC401098 | K230R | 230 | 689 | A>G | Fumrse defiieny |
| RC401099 | R233H | 233 | 698 | G>A | Muliple leiomyomosis |
| RC401100 | R233L | 233 | 698 | G>T | Leiomyomosis nd renl ell ner |
| RC401101 | R233C | 233 | 697 | C>T | Fumrse defiieny |
| RC401102 | A274T | 274 | 820 | G>A | Ovrin muinous ysdenom |
| RC401103 | G282V | 282 | 845 | G>T | Muliple leiomyomosis |
| RC401104 | A308T | 308 | 922 | G>A | Fumrse defiieny |
| RC401105 | N310Y | 310 | 928 | A>T | Muliple uneous nd uerine leiomyom syndrome |
| RC401106 | F312C | 312 | 935 | T>G | Fumrse defiieny |
| RC401107 | H318L | 318 | 953 | A>T | Fumrse defiieny |
| RC401108 | H318Y | 318 | 952 | C>T | Leiomyomosis nd renl ell ner |
| RC401109 | V322D | 322 | 965 | T>A | Leiomyomosis nd renl ell ner |
| RC401110 | T330P | 330 | 988 | A>C | Muliple leiomyomosis |
| RC401111 | C333Y | 333 | 998 | G>A | Muliple uneous nd uerine leiomyom syndrome |
| RC401112 | S334R | 334 | 1002 | T>G | Cuneous leiomyomosis |
| RC401113 | L335P | 335 | 1004 | T>C | Leiomyomosis nd renl ell ner |
| RC401114 | N340K | 340 | 1020 | T>A | Leiomyomosis nd renl ell ner |
| RC401115 | R343X | 343 | 1027 | C>T | Muliple leiomyomosis |
| RC401116 | E355K | 355 | 1063 | G>A | Muliple leiomyomosis |
| RC401117 | N361K | 361 | 1083 | T>A | Muliple leiomyomosis |
| RC401118 | E362Q | 362 | 1084 | G>C | Fumrse defiieny |
| RC401119 | S365G | 365 | 1093 | A>G | Leiomyomosis nd renl ell ner |
| RC401120 | S366N | 366 | 1097 | G>A | Muliple leiomyomosis |
| RC401121 | M368T | 368 | 1103 | T>C | Cuneous leiomyomosis |
| RC401122 | P369S | 369 | 1105 | C>T | Fumrse defiieny |
| RC401123 | N373S | 373 | 1118 | A>G | Renl ell rinom |
| RC401124 | Q376P | 376 | 1127 | A>C | Fumrse defiieny |
| RC401125 | A385D | 385 | 1154 | C>A | Leiomyomosis nd renl ell ner |
| RC401126 | V394L | 394 | 1180 | G>C | Muliple uneous nd uerine leiomyom syndrome |
| RC401127 | G397R | 397 | 1189 | G>A | Muliple leiomyomosis |
| RC401128 | E404X | 404 | 1210 | G>T | Cuneous leiomyomosis |
| RC401129 | S419P | 419 | 1255 | T>C | Leiomyomosis nd renl ell ner |
| RC401130 | D425V | 425 | 1274 | A>T | Fumrse defiieny |
| RC401131 | Q439P | 439 | 1316 | A>C | Leiomyomosis nd renl ell ner |
| RC401132 | M454I | 454 | 1362 | G>A | Leydi ell umour of he esis |
| RC401133 | Y465C | 465 | 1394 | A>G | Leiomyomosis nd renl ell ner |
| RC401134 | K467R | 467 | 1400 | A>G | Leiomyomosis |
| RC401135 | W500X | 500 | 1499 | G>A | Fumrse defiieny |
| RC401136 | L507P | 507 | 1520 | T>C | Muliple leiomyomosis |
