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    FEBS Lett. 1990 Oct 29;273(1-2):87-90.

    Antithrombin Dublin (-3 Val----Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site.

    Daly M, Bruce D, Perry DJ, Price J, Harper PL, O'Meara A, Carrell RW.

    Department of Haematology, MRC Centre, Cambridge, UK.

    Antithrombin Dublin is an electrophoretically fast variant of antithrombin which has normal heparin affinity. Direct sequencing of amplified exon 2 revealed a Val----Glu substitution at position -3. N-terminal sequencing of antithrombin from two individuals, heterozygous for the Dublin mutation, showed the presence of a truncated antithrombin in which the N-terminal dipeptide is absent. We propose that the prepeptide mutation redirects signal peptidase cleavage to a site two amino acids downstream into the mature protein.

    PMID: 1977621 [PubMed - indexed for MEDLINE]

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