Description of the mutations of MPL (NM_005373) 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 |
| RC400169 | W515K | 515 | c.1543_1544 | TG>AA | Missense |
| RC400170 | W515L | 515 | c.1544 | G>T | Missense |
| RC400171 | S505N | 505 | c.1514 | G>A | Missense |
| RC400172 | K39N | 39 | c.117 | G>C | Missense |
