Description of the mutations of CDKN2A (NM_000077) 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 |
| RC400246 | H83Y | 83 | c.247 | C>T | Missense |
| RC400250 | A57V | 57 | c.170 | C>T | Missense |
| RC400254 | L78fs*41 | 78 | c.233_234 | delTC | Frameshift |
| RC400255 | P81L | 81 | c.242 | C>T | Missense |
| RC400259 | P75fs* | 75 | c.225 | delC | Frameshift |
| RC400260 | V126D | 126 | c.377 | T>A | Missense |
| RC400264 | R58* | 58 | c.172 | C>T | Truncation |
| RC400265 | E88* | 88 | c.262 | G>T | Truncation |
| RC400266 | W110* | 110 | c.329 | G>A | Truncation |
| RC400253 | A68T | 68 | c.202 | G>A | Missense |
| RC400247 | D108Y | 108 | c.322 | G>T | Missense |
| RC400251 | P48L | 48 | c.143 | C>T | Missense |
| RC400256 | D84Y | 84 | c.250 | G>T | Missense |
| RC400261 | R24P | 24 | c.71 | G>C | Missense |
| RC400267 | E120* | 120 | c.358 | G>T | Truncation |
| RC400245 | E27D | 27 | c.81 | G>C | Missense |
| RC400262 | M52I | 52 | c.156 | G>C | Missense |
| RC400263 | R80* | 80 | c.238 | C>T | Truncation |
| RC400249 | D108N | 108 | c.322 | G>A | Missense |
| RC400258 | L65P | 65 | c.194 | T>C | Missense |
| RC400244 | G101W | 101 | c.301 | G>T | Missense |
| RC400248 | D108H | 108 | c.322 | G>C | Missense |
| RC400252 | P114L | 114 | c.341 | C>T | Missense |
| RC400257 | S43I | 43 | c.128 | G>T | Missense |
