Description of the mutations of CDKN1B (NM_004064) 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 |
| RC402691 | W76X | 76 | 227 | G>A | Pituitary and parathyroid tumours |
| RC402692 | v109G | 109 | 326 | T>G | Prostate cancer, reduced risk, association with |
| RC402693 | I119T | 119 | 356 | T>C | Myeloproliferative syndrome |
| RC402694 | E172K | 172 | 514 | G>A | Acute lymphoblastic leukaemia |
