Description of the mutations of CBLB (NM_170662) 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 |
| RC403747 | A155v | 155 | 464 | C>T | Diabetes, type 1 |
| RC403748 | F328L | 328 | 982 | T>C | Diabetes, type 1 |
| RC403749 | K837R | 837 | 2510 | A>G | Diabetes, type 1 |
| RC403750 | T882A | 882 | 2644 | A>G | Diabetes, type 1 |
| RC403751 | R968L | 968 | 2903 | G>T | Diabetes, type 1 |
