ABCMdb

PMID: 25888430

Maciag A, Villa F, Ferrario A, Spinelli CC, Carrizzo A, Malovini A, Torella A, Montenero C, Parisi A, Condorelli G, Vecchione C, Nigro V, Montenero AS, Puca AA
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
BMC Genet. 2015 Feb 11;16:15. doi: 10.1186/s12863-015-0177-0., [PubMed]

Sentences

No. Mutations Sentence Comment

61 ABCB4 p.Thr175Ala The rs58238559 single-nucleotide polymorphism (SNP) is located in the ABCB4 gene on chr7:87082273, and determines the nucleotide variation A599G (NM_000443.3) (Figure 2), producing the amino acid change Thr175Ala (NP_000434.1). Login to comment 62 ABCB4 p.Thr175Ala ABCB4 p.Thr175Val The rs58238559 single-nucleotide polymorphism (SNP) is located in the ABCB4 gene on chr7:87082273, and determines the nucleotide variation A599G (NM_000443.3) (Figure 2), producing the amino acid change Thr175Ala (NP_000434.1). Login to comment 63 ABCB4 p.Thr175Val Of note, a Thr175Val variation at the same position has been previously related to gallbladder disease in a sporadic case [18], while ABCB4 mutations are usually associated with familial forms of the disease [19]. Login to comment 64 ABCB4 p.Thr175Ala Taken together, the above data leads to the speculation that ABCB4 variants at position 175 produce a modest genetic predisposition for gallbladder disease, whereas Thr175Ala produces a familial autosomal form of lone AFL. Login to comment 65 ABCB4 p.Thr175Ala Taken together, the above data leads to the speculation that ABCB4 variants at position 175 produce a modest genetic predisposition for gallbladder disease, whereas Thr175Ala produces a familial autosomal form of lone AFL. Login to comment 72 ABCB4 p.Thr175Ala With respect to the rest of the cohort, individuals with the Thr175Ala amino acid change in ABCB4 have a 3.75-fold increase in the probability of developing atrial fibrillation/ flutter. Login to comment 73 ABCB4 p.Thr175Ala With respect to the rest of the cohort, individuals with the Thr175Ala amino acid change in ABCB4 have a 3.75-fold increase in the probability of developing atrial fibrillation/ flutter. Login to comment 81 ABCB4 p.Thr175Ala The present study of a family with a strong clustering of AFL-affected members has found that the rs58238559 SNP in ABCB4, which produces a Thr175Ala amino acid change, is associated with AFL/AF. Login to comment 82 ABCB4 p.Thr175Ala The present study of a family with a strong clustering of AFL-affected members has found that the rs58238559 SNP in ABCB4, which produces a Thr175Ala amino acid change, is associated with AFL/AF. Login to comment