 |
 |
| > Home > Search > Mailing List > Info on HAE > Login |
Detailed info
| Owner: | tosi-lab | Position: | exon 8 | HAEUID: | 37 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16809G>A | Traditional: | Val451Met | ||
| HUGO: | g.17991G>A | HUGO: | p.Val473Met | ||
| CDS: | c.1417G>A | Effect: | pathogenic | ||
| Reference: | Verpy et al. 1995;95:350-359 | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | Method: FAMA followed by sequencing Reduced secretion and defective binding to C1s. See also Eldering et al. J Biol Chem 1995;270:2579-2587 |
||||
Add note (registered labs only)