 |
 |
| > Home > Search > Mailing List > Info on HAE > Login |
Detailed info
| Owner: | tosi-lab | Position: | exon 8 | HAEUID: | 40 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16822T>C | Traditional: | Phe455Ser | ||
| HUGO: | g.18004T>C | HUGO: | p.Phe477Ser | ||
| CDS: | c.1430T>C | Effect: | pathogenic | ||
| Reference: | Verpy et al., 1995; 95:350-359 | ||||
| Family history: | sporadic (negative) | No. of cases: | 0 | ||
| Notes: | Method: FAMA followed by sequencing. Only trace secretion found in transfection studies. Unable to bind C1s. |
||||
Add note (registered labs only)