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Description of the mutations of ALK (NM_004304) 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 |
| RC400189 | F1174L | 1174 | c.3520 | T>C | Missense |
| RC400190 | F1174I | 1174 | c.3520 | T>A | Missense |
| RC400191 | F1174V | 1174 | c.3520 | T>G | Missense |
| RC400192 | F1174C | 1174 | c.3521 | T>G | Missense |
| RC400193 | R1275Q | 1275 | c.3824 | G>A | Missense |
| RC400194 | T1211T | 1211 | c.3633 | C>A | Missense |
| RC400195 | I1171N | 1171 | c.3512 | T>A | Missense |
| RC400196 | F1245V | 1245 | c.3733 | T>G | Missense |
| RC400197 | F1245C | 1245 | c.3734 | T>G | Missense |
| RC402696 | T1087I | 1087 | 3260 | C>T | Neuroblastoma |
| RC402697 | G1128A | 1128 | 3383 | G>C | Neuroblastoma |
| RC402698 | T1151M | 1151 | 3452 | C>T | Neuroblastoma |
| RC402699 | R1192P | 1192 | 3575 | G>C | Neuroblastoma |


