ABCG8 p.Leu650Arg
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 25056759
[PubMed]
Hu M et al: "Potential effects of NPC1L1 polymorphisms in protecting against clinical disease in a chinese family with sitosterolaemia."
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).
X
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.
X
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.
X
ABCG8 p.Leu650Arg 25056759:85:160
status: NEW