Br J Haematol. 1998 Nov;103(2):425-8.

Splicing and missense mutations in the human FXIIIA gene causing FXIII deficiency: effects of these mutations on FXIIIA RNA processing and protein structure.

Anwar R, Gallivan L, Miloszewski KJ, Markham AF.

Source

Molecular Medicine Unit, University of Leeds, St James's University Hospital.

Abstract

We have investigated the molecular basis of factor XIII (FXIII) deficiency in a family from the north-west region of the U.K. and identified two sequence changes in the FXIII subunit A (FXIIIA) gene. We report a novel Asn to Lys mutation at codon 541, and a g-->a mutation at the intron 5/exon 6 splice junction in the FXIIIA gene. The splicing mutation results in two abnormal FXIIIA transcripts. The Asn541 residue is important for stabilizing an external fold in the FXIIIA barrel 1 domain. The Asn541Lys mutation is expected to result in inappropriate folding and therefore an unstable FXIIIA molecule.

PMID:: 9827915; [PubMed - indexed for MEDLINE]

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Wellcome Trust/United Kingdom

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