Description of the mutations of PAK3 (NM_002578) 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 |
| RC402624 | R67C | 67 | 199 | C>T | Mental retardation syndrome, X-linked |
| RC402625 | A365E | 365 | 1094 | C>A | Mental retardation syndrome, X-linked |
| RC402626 | R419X | 419 | 1255 | C>T | Mental retardation syndrome, X-linked |
| RC402627 | W446S | 446 | 1337 | G>C | Mental retardation syndrome, X-linked |
