Description of the mutations of GPC3 (NM_004484) 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 |
| RC402730 | C65X | 65 | 195 | T>A | Simpson-Golbi-Behmel syndrome |
| RC402731 | R86X | 86 | 256 | C>T | Simpson-Golbi-Behmel syndrome |
| RC402732 | R199X | 199 | 595 | C>T | Simpson-Golbi-Behmel syndrome |
| RC402733 | G200R | 200 | 598 | G>A | Simpson-Golbi-Behmel syndrome |
| RC402734 | Q231X | 231 | 691 | C>T | Simpson-Golbi-Behmel syndrome |
| RC402735 | R254X | 254 | 760 | C>T | Simpson-Golbi-Behmel syndrome |
| RC402736 | W296R | 296 | 886 | T>A | Simpson-Golbi-Behmel syndrome |
| RC402737 | K340X | 340 | 1018 | A>T | Simpson-Golbi-Behmel syndrome |
| RC402738 | R387X | 387 | 1159 | C>T | Simpson-Golbi-Behmel syndrome |
| RC402739 | Q471X | 471 | 1411 | C>T | Simpson-Golbi-Behmel syndrome |
| RC402740 | G556R | 556 | 1666 | G>A | Simpson-Golbi-Behmel syndrome |
