Antithrombin III: A Database of Mutations

D A Lane; H Ireland; R J Olds; S L Thein; D J Perry; M Aiach

doi:10.1055/s-0038-1646481

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1991; 66(06): 657-661
DOI: 10.1055/s-0038-1646481

Original Article

Schattauer GmbH Stuttgart

Antithrombin III: A Database of Mutations

D A Lane

The Department of Haematology, Charing Cross and Westminster Medical School, Institute for Molecular Medicine, John Radcliffe Hospital, Oxford, Department of Haematology, MRC Centre, Cambridge, United Kingdom, and Laboratoire d'hémostase, Hôpital Broussais, Paris, France

,

H Ireland

The Department of Haematology, Charing Cross and Westminster Medical School, Institute for Molecular Medicine, John Radcliffe Hospital, Oxford, Department of Haematology, MRC Centre, Cambridge, United Kingdom, and Laboratoire d'hémostase, Hôpital Broussais, Paris, France

,

R J Olds

The Department of Haematology, Charing Cross and Westminster Medical School, Institute for Molecular Medicine, John Radcliffe Hospital, Oxford, Department of Haematology, MRC Centre, Cambridge, United Kingdom, and Laboratoire d'hémostase, Hôpital Broussais, Paris, France

,

S L Thein

The Department of Haematology, Charing Cross and Westminster Medical School, Institute for Molecular Medicine, John Radcliffe Hospital, Oxford, Department of Haematology, MRC Centre, Cambridge, United Kingdom, and Laboratoire d'hémostase, Hôpital Broussais, Paris, France

,

D J Perry

The Department of Haematology, Charing Cross and Westminster Medical School, Institute for Molecular Medicine, John Radcliffe Hospital, Oxford, Department of Haematology, MRC Centre, Cambridge, United Kingdom, and Laboratoire d'hémostase, Hôpital Broussais, Paris, France

,

M Aiach

The Department of Haematology, Charing Cross and Westminster Medical School, Institute for Molecular Medicine, John Radcliffe Hospital, Oxford, Department of Haematology, MRC Centre, Cambridge, United Kingdom, and Laboratoire d'hémostase, Hôpital Broussais, Paris, France

› Author Affiliations

Abstract

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Summary

Elucidation of the molecular defects reponsible for antithrombin III deficiency is proceeding rapidly. In order that a record is kept of the new and duplicated mutations that are found, we have compiled a database that we plan to update annually. In this, the first report of the database, we list 6 antithrombin III locus sequence polymorphisms and 94 recorded mutations causing functional deficiency of the protein, 38 of which are novel. As is the case with mutations affecting other protein genes, most mutations of antithrombin III involve a CG to TG or CA change.

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References

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