Description of the mutations of DDR2 (NM_006182) 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 |
| RC402797 | T713I | 713 | 2138 | C>T | Spondylo-me-epiphysel dysplsi, shor limb-hnd ype |
| RC402798 | I726R | 726 | 2177 | T>G | Spondylo-me-epiphysel dysplsi, shor limb-hnd ype |
| RC402799 | R752C | 752 | 2254 | C>T | Spondylo-me-epiphysel dysplsi, shor limb-hnd ype |
