Description of the mutations of STAT1 (NM_007315) 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 |
| RC403201 | E320Q | 320 | 958 | G>C | Impired myoberil immuniy |
| RC403202 | Q463H | 463 | 1389 | G>T | Impired myoberil immuniy |
| RC403203 | L600P | 600 | 1799 | T>C | Impired myoberil immuniy |
| RC403204 | L706S | 706 | 2117 | T>C | Impired myoberil immuniy |
