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    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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