Description of the mutations of ZAP70 (NM_001079) 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 |
| RC402546 | P80Q | 80 | 239 | C>A | CD8 defiieny |
| RC402547 | R465C | 465 | 1393 | C>T | Immunodefiieny, severe ombined |
| RC402548 | A507V | 507 | 1520 | C>T | Immunodefiieny, severe ombined |
| RC402549 | S518R | 518 | 1554 | C>A | Immunodefiieny, severe ombined |
| RC402550 | M572L | 572 | 1714 | A>T | CD8 defiieny |
