Description of the mutations of RB1 (NM_000321) 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 |
| RC400164 | R556* | 556 | c.1666 | C>T | Truncation |
| RC400166 | R455* | 455 | c.1363 | C>T | Truncation |
| RC400165 | R661W | 661 | c.1981 | C>T | Missense |
| RC400167 | R552* | 552 | c.1654 | C>T | Truncation |
| RC400168 | R251* | 251 | c.751 | C>T | Truncation |
