ABCA4 p.Val2244Ile
| ClinVar: |
c.6732G>A
,
p.Val2244=
N
, Benign
|
| Predicted by SNAP2: | A: N (72%), C: N (66%), D: D (63%), E: N (61%), F: N (57%), G: D (63%), H: N (61%), I: N (93%), K: N (53%), L: N (87%), M: N (78%), N: N (57%), P: D (53%), Q: N (61%), R: N (53%), S: N (61%), T: N (78%), W: D (71%), Y: N (61%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: N, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, W: D, Y: D, |
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[hide] The carboxyterminus of the ATP-binding cassette tr... Biochem Biophys Res Commun. 2002 May 3;293(2):759-65. 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., [PMID:12054535]
Abstract [show]
Recent work identified ABCA1 as the major regulator of plasma HDL-cholesterol responsible for the removal of excess choline-phospholipids and cholesterol from peripheral cells and tissues. ABCA1 function may depend on the association with heteromeric proteins and to identify these candidates a human liver yeast two-hybrid library was screened with the carboxyterminal 144 amino acids of ABCA1. Beta2-syntrophin was found to interact with ABCA1 and the C-terminal five amino acids of ABCA1 proned to represent a perfect tail for binding to syntrophin PDZ domains. Immunoprecipitation further confirmed the association of ABCA1 and beta2-syntrophin and in addition utrophin, known to couple beta2-syntrophin and its PDZ ligands to the F-actin cytoskeleton, was identified as a constituent of this complex. ABCA1 in the plasmamembrane of human macrophages was found to be partially associated with Lubrol rafts and effluxed choline-phospholipids involve these microdomains. Beta2-syntrophin does not colocalize in these rafts indicating that beta2-syntrophin may participate in the retaining of ABCA1 in cytoplasmic vesicles and for the targeting of ABCA1 to plasmamembrane microdomains when ABCA1 is released from beta2-syntrophin.
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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85 (1) R2144X causing the Tangier disease [32]; (2) P2151L rare single nucleotide polymorphism (own unpublished results); (3) F2163S; (5) V2244I associated with low HDL, hypertrophic cardiomyopathy, and disturbed glucose metabolism; (4) 4 bp insertion at nucleotide 6513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].
X
ABCA4 p.Val2244Ile 12054535:85:135
status: NEW84 (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].
X
ABCA4 p.Val2244Ile 12054535:84:135
status: NEW