> Home    > Search    > Mailing List    > Info on HAE    > Login 

    Detailed info

    Owner: tosi-lab Position: exon 8 HAEUID: 39
    Nucleotide change Protein change
    Traditional: 16834T>G Traditional: Leu459Arg
    HUGO: g.18016T>G HUGO: p.Leu481Arg
    CDS: c.1442T>G Effect: pathogenic
    Reference: Verpy et al. 1995;95:350-359
    Family history: sporadic (negative) No. of cases: 0
    Notes: Method: FAMA followed by sequencing.
    Found associated(in cis) with the Gln452Glu change. Mutant Leu459Arg is not secreted in transfection studies, neither alone nor together with Gln452Glu

    Add note (registered labs only)