ABCMdb

PMID: 12054535

Buechler C, Boettcher A, Bared SM, Probst MC, Schmitz G
The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex.
Biochem Biophys Res Commun. 2002 May 3;293(2):759-65., [PubMed]

Sentences

No. Mutations Sentence Comment

84 ABCA1 p.Arg2144* ABCA1 p.Phe2163Ser ABCA4 p.Val2244Ile (1) R2144X causing the Tangier disease [32]; (2) P2151L rare single nucleotide polymorphism (own unpublished results); (3) F2163S; (5) V2244I associated with low HDL, hypertrophic cardiomyopathy, and disturbed glucose metabolism; (4) 4 bp insertion at nucleotide 6513 causing a premature stop and Tangier disease [20]. Login to comment 85 ABCA4 p.Asp2177Asn ABCA1 p.Arg2144* ABCA1 p.Phe2163Ser ABCA4 p.Val2244Ile ABCA4 p.Cys2150Trp ABCA4 p.Arg2139Trp ABCA4 p.Arg2149* (1) R2144X causing the Tangier disease [32]; (2) P2151L rare single nucleotide polymorphism (own unpublished results); (3) F2163S; (5) V2244I associated with low HDL, hypertrophic cardiomyopathy, and disturbed glucose metabolism; (4) 4 bp insertion at nucleotide 6513 causing a premature stop and Tangier disease [20]. Login to comment 86 ABCA4 p.Asp2177Asn ABCA4 p.Cys2150Trp ABCA4 p.Arg2139Trp ABCA4 p.Arg2149* (6) R2139W; (7) R2149X causing Stargardt`s disease [33]; (8) C2150W, Stargardt`s disease; (9) 11 bp deletion after K2172 associated with age-related macular degeneration; (10) D2177N associated with age-related macular degeneration; (11) 1 bp deletion after F2189 causing age-related macular degeneration [34]; (12) 1 bp insertion at T2237, the cause of Stargardt`s disease. Login to comment