Description of the mutations of MERTK (NM_006343) 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 |
| RC402805 | L12P | 12 | 35 | T>C | Retinitis pigmentosa |
| RC402806 | R20T | 20 | 59 | G>C | Retinal dystrophy |
| RC402807 | C115G | 115 | 343 | T>G | Retinitis pigmentosa |
| RC402808 | R651X | 651 | 1951 | C>T | Retinitis pigmentosa |
| RC402809 | R722X | 722 | 2164 | C>T | Rod-cone dystrophy |
| RC402810 | R844C | 844 | 2530 | C>T | Rod-cone dystrophy |
