ABCC8 p.Arg370Ser

Predicted by SNAP2: A: D (53%), C: D (59%), D: D (85%), E: D (59%), F: D (66%), G: D (53%), H: N (66%), I: D (63%), K: N (82%), L: D (59%), M: D (66%), N: N (61%), P: D (71%), Q: N (57%), S: N (61%), T: N (66%), V: D (53%), W: D (91%), Y: D (71%),
Predicted by PROVEAN: A: N, C: D, D: D, E: N, F: D, G: D, H: N, I: D, K: N, L: D, M: D, N: N, P: D, Q: N, S: N, T: N, 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] 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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