Detailed info
| Owner: |
tosi-lab |
Position: |
exon 6 |
HAEUID: |
29 |
| Nucleotide change |
Protein change |
| Traditional: |
8807T>C |
Traditional: |
Met303Thr |
| HUGO: |
g.9989T>C |
HUGO: |
p.Met325Thr |
| CDS: |
c.974T>C |
Effect: |
pathogenic |
| Reference: |
Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19) |
| Family history: |
positive |
No. of cases: |
2 |
| Notes: |
Method: FAMA followed by sequencing. Cosegregates with disease in a 3 generation family. Also found as de novo mutation (Pappalardo et al. J Allergy Clin Immunol 2000;106:1147-54. Conserved amino acid in serpins.
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