Description of the mutations of SERPIND1 (NM_000185) 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 |
| RC401469 | R208H | 208 | 623 | G>A | Heparin cofactor 2 deficiency |
| RC401470 | E447K | 447 | 1339 | G>A | Heparin cofactor 2 deficiency |
| RC401471 | P462L | 462 | 1385 | C>T | Heparin cofactor 2 deficiency |
