ABCC8 p.Arg1420Cys

Predicted by SNAP2: A: D (75%), C: D (66%), D: D (91%), E: D (85%), F: D (85%), G: D (85%), H: D (66%), I: D (85%), K: N (78%), L: D (85%), M: D (75%), N: D (71%), P: D (91%), Q: D (66%), S: D (71%), T: D (80%), V: D (80%), W: D (91%), Y: D (85%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Cartier EA, Conti LR, Vandenberg CA, Shyng SL
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.
Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2882-7., [PMID:11226335]

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[hide] Matsuo M, Kimura Y, Ueda K
KATP channel interaction with adenine nucleotides.
J Mol Cell Cardiol. 2005 Jun;38(6):907-16. Epub 2005 Feb 5., [PMID:15910875]

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[hide] Matsuo M, Trapp S, Tanizawa Y, Kioka N, Amachi T, Oka Y, Ashcroft FM, Ueda K
Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy.
J Biol Chem. 2000 Dec 29;275(52):41184-91., [PMID:10993895]

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[hide] Seino S, Miki T
Physiological and pathophysiological roles of ATP-sensitive K+ channels.
Prog Biophys Mol Biol. 2003 Feb;81(2):133-76., [PMID:12565699]

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[hide] Huopio H, Shyng SL, Otonkoski T, Nichols CG
K(ATP) channels and insulin secretion disorders.
Am J Physiol Endocrinol Metab. 2002 Aug;283(2):E207-16., [PMID:12110524]

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[hide] Ohkubo K, Nagashima M, Naito Y, Taguchi T, Suita S, Okamoto N, Fujinaga H, Tsumura K, Kikuchi K, Ono J
Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.
Clin Endocrinol (Oxf). 2005 Apr;62(4):458-65., [PMID:15807877]

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[hide] Tanizawa Y, Matsuda K, Matsuo M, Ohta Y, Ochi N, Adachi M, Koga M, Mizuno S, Kajita M, Tanaka Y, Tachibana K, Inoue H, Furukawa S, Amachi T, Ueda K, Oka Y
Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.
Diabetes. 2000 Jan;49(1):114-20., [PMID:10615958]

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[hide] Campbell JD, Sansom MS, Ashcroft FM
Potassium channel regulation.
EMBO Rep. 2003 Nov;4(11):1038-42., [PMID:14593442]

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[hide] James C, Kapoor RR, Ismail D, Hussain K
The genetic basis of congenital hyperinsulinism.
J Med Genet. 2009 May;46(5):289-99. Epub 2009 Mar 1., [PMID:19254908]

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[hide] Matsuo M, Tanabe K, Kioka N, Amachi T, Ueda K
Different binding properties and affinities for ATP and ADP among sulfonylurea receptor subtypes, SUR1, SUR2A, and SUR2B.
J Biol Chem. 2000 Sep 15;275(37):28757-63., [PMID:10893240]

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[hide] Matsuo M
ATP-binding cassette proteins involved in glucose and lipid homeostasis.
Biosci Biotechnol Biochem. 2010;74(5):899-907. Epub 2010 May 7., [PMID:20460728]

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[hide] Saito-Hakoda A, Yorifuji T, Kanno J, Kure S, Fujiwara I
Nateglinide is Effective for Diabetes Mellitus with Reactive Hypoglycemia in a Child with a Compound Heterozygous ABCC8 Mutation.
Clin Pediatr Endocrinol. 2012 Jul;21(3):45-52. doi: 10.1297/cpe.21.45. Epub 2012 Jul 25., [PMID:23926410]

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[hide] Rahman SA, Nessa A, Hussain K
Molecular mechanisms of congenital hyperinsulinism.
J Mol Endocrinol. 2015 Apr;54(2):R119-29. doi: 10.1530/JME-15-0016. Epub 2015 Mar 2., [PMID:25733449]

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[hide] Baier LJ, Muller YL, Remedi MS, Traurig M, Piaggi P, Wiessner G, Huang K, Stacy A, Kobes S, Krakoff J, Bennett PH, Nelson RG, Knowler WC, Hanson RL, Nichols CG, Bogardus C
ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes.
Diabetes. 2015 Dec;64(12):4322-32. doi: 10.2337/db15-0459. Epub 2015 Aug 5., [PMID:26246406]

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