ABCG8 p.Leu650Arg
| Predicted by SNAP2: | A: N (87%), C: N (87%), D: N (57%), E: N (78%), F: N (87%), G: N (66%), H: N (78%), I: N (97%), K: N (78%), M: N (97%), N: N (82%), P: N (57%), Q: N (78%), R: N (66%), S: N (82%), T: N (82%), V: N (97%), W: D (53%), Y: N (82%), |
| Predicted by PROVEAN: | A: N, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: N, V: N, W: D, Y: N, |
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[hide] Potential effects of NPC1L1 polymorphisms in prote... J Atheroscler Thromb. 2014;21(9):989-95. Epub 2014 Jul 24. Hu M, Yuen YP, Kwok JS, Griffith JF, Tomlinson B
Potential effects of NPC1L1 polymorphisms in protecting against clinical disease in a chinese family with sitosterolaemia.
J Atheroscler Thromb. 2014;21(9):989-95. Epub 2014 Jul 24., [PMID:25056759]
Abstract [show]
Sitosterolaemia is caused by mutations in either ABCG5 or ABCG8. Chinese and Japanese individuals usually have mutations in ABCG5. We herein report a known and a novel mutation in ABCG8 and their potential interaction with NPC1L1 polymorphisms in a Chinese family with sitosterolaemia. We sequenced ABCG5 and ABCG8 and measured the levels of plasma plant sterols in a 15-year-old Chinese girl with clinical sitosterolaemia (xanthomas with elevated low-density lipoprotein cholesterol (LDL-C) and plant sterols) and her apparently healthy family members. NPC1L1 was sequenced in the genetically affected sibling and other family members. A known mutation, c.490CT (p. Arg164()), in exon 4 and a novel mutation, c.1949TG (p.Leu650Arg), in exon 13 of ABCG8 were detected in the proband and her sister, who had elevated sterols but low LDL-C levels and no xanthomas. The genetically affected sister, but not the proband, carried two additional heterozygous changes in NPC1L1 (rs2072183 CG, rs2301935 AC), which were inherited from the mother, who also had a low LDL-C level. In this study, we detected a known and a novel mutation in ABCG8 in a Chinese patient with sitosterolaemia. The same mutations were found in her clinically normal sister, suggesting that the contrasting features with the proband may be related to different variants in NPC1L1 and/or some other undetermined lipid-related genetic factors.
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No. Sentence Comment
10 A known mutation, c.490C&#ff1e;T (p. Arg164&#ff0a; ), in exon 4 and a novel mutation, c.1949T&#ff1e;G (p.Leu650Arg), in exon 13 of ABCG8 were detected in the proband and her sister, who had elevated sterols but low LDL-C levels and no xanthomas.
X
ABCG8 p.Leu650Arg 25056759:10:105
status: NEW49 The c.1949T&#ff1e;G is a novel missense change that is predicted to cause a substitution of leucine at position 650 by arginine (p.Leu650Arg).
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ABCG8 p.Leu650Arg 25056759:49:92
status: NEWX
ABCG8 p.Leu650Arg 25056759:49:131
status: NEW84 However, among the present cases of sitosterolaemia, we found one known mutation (p.Arg164&#ff0a; ) in exon 4, and a novel mutation, p.Leu650Arg, in exon 13 of ABCG8.
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ABCG8 p.Leu650Arg 25056759:84:135
status: NEW85 The Arg164&#ff0a; mutation in ABCG8 has previously been reported in a South African family of Indian Asian origin8) , whereas this is the first report of the p.Leu650Arg mutation in patients with sitosterolaemia.
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ABCG8 p.Leu650Arg 25056759:85:160
status: NEW