Table II. Mutations identified in MEKK2 and MEKK3 using iTILLING.
Mutation | Gene | het/hmza | Amino Acid Effectb |
1 | MEKK2 | hmz | A527T |
2 | MEKK2 | het | L557F |
3 | MEKK2 | het | S538N |
4 | MEKK2 | het | V492I |
5 | MEKK2 | het | Q174Q |
6 | MEKK3 | het | G387R |
7 | MEKK3 | het | L398F |
8 | MEKK3 | hmz | L142L |
9 | MEKK3 | hmz | S404S |
10 | MEKK3 | het | S404S |
11 | MEKK3 | het | Q362Q |
12 | MEKK3 | het | P134P |
Indicates whether the mutation was initially identified in the heterozygous (het) or homozygous (hmz) state.
Indicates the amino acid affected by each mutation and its position in the protein. Amino acid changes are noted in boldface.