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Description of the mutations of MAP2K1 (NM_002755) Mutants
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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 |
| RC402649 | E44G | 44 | 131 | A>G | Noonan syndrome ? |
| RC402650 | F53S | 53 | 158 | T>C | Cardio-facio-cutaneous syndrome |
| RC402651 | T55P | 55 | 163 | A>C | Costello syndrome |
| RC402652 | D67N | 67 | 199 | G>A | Cardio-facio-cutaneous syndrome |
| RC402653 | P124L | 124 | 371 | C>T | Cardio-facio-cutaneous syndrome |
| RC402654 | P124Q | 124 | 371 | C>A | Cardio-facio-cutaneous syndrome |
| RC402655 | G128v | 128 | 383 | G>T | Cardio-facio-cutaneous syndrome |
| RC402656 | Y130C | 130 | 389 | A>G | Cardio-facio-cutaneous syndrome |
| RC402657 | Y130N | 130 | 388 | T>A | Cardio-facio-cutaneous syndrome |
| RC402658 | E203Q | 203 | 607 | G>C | Cardio-facio-cutaneous syndrome |


