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    Detailed info

    Owner: tosi-lab Position: exon 7 HAEUID: 36
    Nucleotide change Protein change
    Traditional: 14181A>T Traditional: Thr372Pro
    HUGO: g.15363A>T HUGO: p.Thr394Pro
    CDS: c.1180A>T Effect: unknown
    Reference: Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19)
    Family history: positive No. of cases: 0
    Notes: Method: FAMA followed by sequencing

    No functional information. Low conservation of Thr, but Pro not found at this position in serpins
    Note of tordai-lab (2004-03-07): Also found in one Hungarian HAE type I family (Kalmar L et al (Hum Mutat 2003 Dec;22(6):498);14635117)

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