Description of the mutations of CDH1 (NM_004360) 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 |
| RC400181 | T263fs*3 | 263 | c.786_794 | CACCCAGGA>T | Frameshift |
| RC400182 | V82fs*13 | 80 | c.240_241 | insGGTG | Frameshift |
| RC400183 | D370H | 370 | c.1108 | G>C | Missense |
| RC400184 | T399fs*17 | 399 | c.1196_1199 | delCTGA | Frameshift |
| RC400187 | G434fs* | 434 | c.1302_1303 | insA | Frameshift |
| RC400185 | A634V | 634 | c.1901 | C>T | Missense |
| RC400186 | L14fs* | 14 | c. 41 | delT | Frameshift |
| RC400188 | L436fs* | 436 | c.1306_1307 | delTT | Frameshift |
