ABCC8 p.Glu1506Lys

Predicted by SNAP2: A: D (91%), C: D (91%), D: D (91%), F: D (91%), G: D (95%), H: D (91%), I: D (91%), K: D (95%), L: D (91%), M: D (91%), N: D (91%), P: D (85%), Q: D (85%), R: D (95%), S: D (91%), T: D (91%), V: D (91%), W: D (95%), Y: D (91%),
Predicted by PROVEAN: A: D, C: D, D: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Abdulhadi-Atwan M, Bushman J, Tornovsky-Babaey S, Perry A, Abu-Libdeh A, Glaser B, Shyng SL, Zangen DH
Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence.
Diabetes. 2008 Jul;57(7):1935-40. Epub 2008 Apr 4., [PMID:18390792]

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[hide] Vieira TC, Bergamin CS, Gurgel LC, Moises RS
Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation.
Pediatr Diabetes. 2010 Nov;11(7):505-8. doi: 10.1111/j.1399-5448.2009.00626.x., [PMID:20042013]

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[hide] Campbell JD, Proks P, Lippiat JD, Sansom MS, Ashcroft FM
Identification of a functionally important negatively charged residue within the second catalytic site of the SUR1 nucleotide-binding domains.
Diabetes. 2004 Dec;53 Suppl 3:S123-7., [PMID:15561899]

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[hide] Hussain K, Cosgrove KE
From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels.
Pediatr Diabetes. 2005 Jun;6(2):103-13., [PMID:15963039]

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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] Otonkoski T, Nanto-Salonen K, Seppanen M, Veijola R, Huopio H, Hussain K, Tapanainen P, Eskola O, Parkkola R, Ekstrom K, Guiot Y, Rahier J, Laakso M, Rintala R, Nuutila P, Minn H
Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography.
Diabetes. 2006 Jan;55(1):13-8., [PMID:16380471]

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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] Gribble FM, Reimann F
Sulphonylurea action revisited: the post-cloning era.
Diabetologia. 2003 Jul;46(7):875-91. Epub 2003 Jun 18., [PMID:12819907]

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[hide] Kapoor RR, Flanagan SE, James CT, McKiernan J, Thomas AM, Harmer SC, Shield JP, Tinker A, Ellard S, Hussain K
Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.
Diabetologia. 2011 Oct;54(10):2575-83. Epub 2011 Jun 15., [PMID:21674179]

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[hide] Huopio H, Otonkoski T, Vauhkonen I, Reimann F, Ashcroft FM, Laakso M
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.
Lancet. 2003 Jan 25;361(9354):301-7., [PMID:12559865]

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[hide] Yorifuji T, Kawakita R, Nagai S, Sugimine A, Doi H, Nomura A, Masue M, Nishibori H, Yoshizawa A, Okamoto S, Doi R, Uemoto S, Nagasaka H
Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes.
J Clin Endocrinol Metab. 2011 Jan;96(1):E141-5. Epub 2010 Oct 13., [PMID:20943781]

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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] Flanagan SE, Kapoor RR, Banerjee I, Hall C, Smith VV, Hussain K, Ellard S
Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.
Clin Genet. 2011 Jun;79(6):582-7. doi: 10.1111/j.1399-0004.2010.01476.x., [PMID:20573158]

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[hide] Huopio H, Jaaskelainen J, Komulainen J, Miettinen R, Karkkainen P, Laakso M, Tapanainen P, Voutilainen R, Otonkoski T
Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.
J Clin Endocrinol Metab. 2002 Oct;87(10):4502-7., [PMID:12364426]

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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] de Lonlay P, Giurgea I, Sempoux C, Touati G, Jaubert F, Rahier J, Ribeiro M, Brunelle F, Nihoul-Fekete C, Robert JJ, Saudubray JM, Stanley C, Bellanne-Chantelot C
Dominantly inherited hyperinsulinaemic hypoglycaemia.
J Inherit Metab Dis. 2005;28(3):267-76., [PMID:15868462]

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[hide] Magge SN, Shyng SL, MacMullen C, Steinkrauss L, Ganguly A, Katz LE, Stanley CA
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor.
J Clin Endocrinol Metab. 2004 Sep;89(9):4450-6., [PMID:15356046]

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[hide] Mannikko R, Flanagan SE, Sim X, Segal D, Hussain K, Ellard S, Hattersley AT, Ashcroft FM
Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes.
Diabetes. 2011 Jun;60(6):1813-22., [PMID:21617188]

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[hide] Reimann F, Huopio H, Dabrowski M, Proks P, Gribble FM, Laakso M, Otonkoski T, Ashcroft FM
Characterisation of new KATP-channel mutations associated with congenital hyperinsulinism in the Finnish population.
Diabetologia. 2003 Feb;46(2):241-9. Epub 2003 Jan 9., [PMID:12627323]

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[hide] Hussain K
Congenital hyperinsulinism.
Semin Fetal Neonatal Med. 2005 Aug;10(4):369-76., [PMID:15916932]

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[hide] Faletra F, Snider K, Shyng SL, Bruno I, Athanasakis E, Gasparini P, Dionisi-Vici C, Ventura A, Zhou Q, Stanley CA, Burlina A
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.
Gene. 2013 Mar 1;516(1):122-5. doi: 10.1016/j.gene.2012.12.055. Epub 2012 Dec 22., [PMID:23266803]

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[hide] Faletra F, Athanasakis E, Morgan A, Biarnes X, Fornasier F, Parini R, Furlan F, Boiani A, Maiorana A, Dionisi-Vici C, Giordano L, Burlina A, Ventura A, Gasparini P
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.
Gene. 2013 May 25;521(1):160-5. doi: 10.1016/j.gene.2013.03.021. Epub 2013 Mar 16., [PMID:23506826]

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[hide] Shimomura K, Tusa M, Iberl M, Brereton MF, Kaizik S, Proks P, Lahmann C, Yaluri N, Modi S, Huopio H, Ustinov J, Otonkoski T, Laakso M, Ashcroft FM
A mouse model of human hyperinsulinism produced by the E1506K mutation in the sulphonylurea receptor SUR1.
Diabetes. 2013 Nov;62(11):3797-806. doi: 10.2337/db12-1611. Epub 2013 Jul 31., [PMID:23903354]

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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] Ortiz D, Bryan J
Neonatal Diabetes and Congenital Hyperinsulinism Caused by Mutations in ABCC8/SUR1 are Associated with Altered and Opposite Affinities for ATP and ADP.
Front Endocrinol (Lausanne). 2015 Apr 15;6:48. doi: 10.3389/fendo.2015.00048. eCollection 2015., [PMID:25926814]

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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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[hide] Minute M, Patti G, Tornese G, Faleschini E, Zuiani C, Ventura A
Sirolimus Therapy in Congenital Hyperinsulinism: A Successful Experience Beyond Infancy.
Pediatrics. 2015 Nov;136(5):e1373-6. doi: 10.1542/peds.2015-1132., [PMID:26504125]

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[hide] Cai M, Bompada P, Atac D, Laakso M, Groop L, De Marinis Y
Epigenetic regulation of glucose-stimulated osteopontin (OPN) expression in diabetic kidney.
Biochem Biophys Res Commun. 2016 Jan 1;469(1):108-13. doi: 10.1016/j.bbrc.2015.11.079. Epub 2015 Nov 22., [PMID:26592666]

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