Description of the mutations of MAF (NM_005360) 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 |
| RC402776 | R288P | 288 | 863 | G>C | Cataract, ocular anterior dysgenesis and coloboma |
| RC402777 | K297R | 297 | 890 | A>G | Cerulean cataract |
| RC402778 | R299S | 299 | 895 | C>A | Cataract-microcornea syndrome |
