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    Detailed info

    Owner: tosi-lab Position: intron 2 HAEUID: 16
    Nucleotide change Protein change
    Traditional: 642G>A Traditional: splicing defect
    HUGO: g.1824G>A HUGO: p.-
    CDS: c.51+5G>A Effect: pathogenic
    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
    Mutation affects position +5 of donor site. Strongly reduced splicing of exon 2 was demonstrated by in vitro mutagenesis of Minigene and cell transfection (unpublished)

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