Description of the mutations of GRK1 (NM_002929) 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 |
| RC402677 | P290L | 290 | 869 | C>T | Reiniis pimenos |
| RC402678 | T298M | 298 | 893 | C>T | Reiniis pimenos |
| RC402679 | N330S | 330 | 989 | A>G | Reiniis pimenos |
| RC402680 | V380D | 380 | 1139 | T>A | Sionry nih blindness, Ouhi ype |
| RC402681 | P391H | 391 | 1172 | C>A | Sionry nih blindness, Ouhi ype |
| RC402682 | R438H | 438 | 1313 | G>A | Reiniis pimenos |
| RC402683 | W460R | 460 | 1378 | T>C | Reiniis pimenos |
| RC402684 | C514S | 514 | 1541 | G>C | Reiniis pimenos |
| RC402685 | M522T | 522 | 1565 | T>C | Reiniis pimenos |
| RC402686 | S536L | 536 | 1607 | C>T | Reiniis pimenos |
