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    Detailed info

    Owner: tordai-lab Position: exon 3 HAEUID: 133
    Nucleotide change Protein change
    Traditional: 2533G>A Traditional: Cys108Tyr
    HUGO: g.3715G>A HUGO: p.Cys130Tyr
    CDS: c.389G>A Effect: pathogenic
    Reference: Kalmar L et al (Hum Mutat 2003 Dec;22(6):498)
    Family history: positive No. of cases: 2
    Notes: - Not detected among 100 control chromosomes.
    - Disease-linked segregation in the family.
    - Destroys the disulfide bond between the Cys108 and Cys183 amino acids.

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