Description of the mutations of TYK2 (NM_003331) 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 |
| RC402687 | V362F | 362 | 1084 | G>T | Sysemi lupus eryhemosus, susepibiliy ssoiion wih |
| RC402688 | G363S | 363 | 1087 | G>A | Aue myeloid leukemi, redued risk, ssoiion wih |
| RC402689 | I684S | 684 | 2051 | T>G | Sysemi lupus eryhemosus, susepibiliy ssoiion wih |
| RC402690 | P1104A | 1104 | 3310 | C>G | Cner, ssoiion wih ? |
