ABCMdb

PMID: 16290310

Lam CW, Cheung KM, Tsui MS, Yan MS, Lee CY, Tong SF
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2.
J Hepatol. 2006 Jan;44(1):240-2. Epub 2005 Nov 2., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCB11 p.Ile498Thr We found two novel ABCB11 gene mutations in the patient, i.e. I498T and 2098delA. Login to comment 75 ABCB11 p.Ile498Thr ARMS assay for 1493 TOC The ARMS assay was performed in order to determine whether the mutation 1493 TOC (I498T) was a SNP or a missense mutation. Login to comment 76 ABCB11 p.Ile498Thr The mutation was not present in any of the 50 normal, Chinese individuals who were screened by the ARMS assay-implying that I498T is probably a disease-causing mutation (data not shown). Login to comment 78 ABCB11 p.Ile498Thr (Top) The missense mutation 1493 TOC or I498T in the patient shown in the sense direction. Login to comment 87 ABCB11 p.Ile498Thr Based on the negative results of the ARMS assay, the novel mutation I498T (1493 TOC) is believed to be a disease-causing mutation. Login to comment 88 ABCB11 p.Ile498Thr I498T occurs in the first ATP-binding domain of BSEP, but it does not affect the Walker motifs or the linker region of the cytoplasmic domain-implying that the mutation is a BRIC2-specific mutation. Login to comment 89 ABCB11 p.Ile498Thr The I498T mutation resembles other missense mutations that are recently reported and might affect the BSEP molecule in a similar manner [6,7]. Login to comment 90 ABCB11 p.Ile498Thr I498T might produce an immature BSEP molecule that is confined to the endoplasmic reticulumandislaterdegradedbytheproteasomepathway[6]. Login to comment