Description of the mutations of XRCC1 (NM_006297) 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 |
| RC402801 | V72A | 72 | 215 | T>C | Sinle srnd breks, ssoiion wih |
| RC402802 | R194W | 194 | 580 | C>T | Benin bres disese, ssoiion wih |
| RC402803 | R280H | 280 | 839 | G>A | Inresed lun nerisk, ssoiion wih |
| RC402804 | R399Q | 399 | 1196 | G>A | Inresed lun nerisk, ssoiion wih |
