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    Detailed info

    Owner: tosi-lab Position: exon 8 HAEUID: 38
    Nucleotide change Protein change
    Traditional: 16812C>G Traditional: Gln452Glu
    HUGO: g.17994C>G HUGO: p.Gln474Glu
    CDS: c.1420C>G Effect: unknown
    Reference: Verpy et al. 1995;95:350-359
    Family history: sporadic (negative) No. of cases: 0
    Notes: Method: FAMA followed by sequencing
    This change was not found isolated, but only associated (in cis) with the Leu459Arg mutation. Transfection studies with the single mutation Gln452Glu demonstrated that alone it does not affect secretion or C1s binding. It cannot be considered as a polymorphism, because has so far been observed only in one case

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