ABCA4 p.Cys2150Trp
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PMID: 12054535
[PubMed]
Buechler C et al: "The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex."
No.
Sentence
Comment
85
(1) R2144X causing the Tangier disease [32]; (2) P2151L rare single nucleotide polymorphism (own unpublished results); (3) F2163S; (5) V2244I associated with low HDL, hypertrophic cardiomyopathy, and disturbed glucose metabolism; (4) 4 bp insertion at nucleotide 6513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].
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ABCA4 p.Cys2150Trp 12054535:85:61
status: NEW86 (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.
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ABCA4 p.Cys2150Trp 12054535:86:61
status: NEW