ABCMdb

PMID: 14631379

Gotting C, Schulz V, Hendig D, Grundt A, Dreier J, Szliska C, Brinkmann T, Kleesiek K
Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients.
Lab Invest. 2004 Jan;84(1):122-30., [PubMed]

Sentences

No. Mutations Sentence Comment

23 ABCC6 p.Arg1141* The first mutations in the ABCC6 gene were identified in the genomic DNA isolated from PXE patients, and comparative family analysis could confirm most of these mutations to be associated with the PXE phenotype.7-9,14-18 A frequent mutation detected in the ABCC6 gene in PXE patients is the nonsense mutation c.3421C4T (p.R1141X), resulting in a truncated protein that lacks the second ATP-binding domain of the native MRP6.7-9,19,20 Another mutation, which is frequently found in American PXE patients, is a large deletion including exons 23-29,17 which also leads to a loss of the second ATP-binding site of MRP6. Login to comment 122 ABCC6 p.Arg1141* (a) Schematic structure of the MRP6 protein and localization of the mutations c.3421C4T (p.R1141X), c.3389C4T (p.T1130 M) and c.3341G4A (p.R1114 H). Login to comment 144 ABCC6 p.Thr1130Met The c.3389C4T mutation was present in a homozygous state in one patient and resulted in a substitution of threonine to methionine at position 1130 in the amino-acid sequence of the MRP6 protein. Login to comment