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Description of the mutations of EPHX1 (NM_000120) Mutants
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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 |
| RC401073 | R43T | 43 | 128 | G>C | Inresed EPHX1 iviy, ssoiion wih |
| RC401074 | W97X | 97 | 290 | G>A | Poenil proein defiieny |
| RC401075 | Y113H | 113 | 337 | T>C | Epoxide hydrolse defiieny, ssoiion wih |
| RC401076 | H139R | 139 | 416 | A>G | Preelmpsi, ssoiion wih |


