ABCC8 p.Tyr356Cys

Predicted by SNAP2: A: D (71%), C: D (59%), D: D (85%), E: D (85%), F: N (57%), G: D (80%), H: D (80%), I: D (63%), K: D (91%), L: D (53%), M: D (71%), N: D (85%), P: D (91%), Q: D (85%), R: D (91%), S: D (66%), T: D (85%), V: D (63%), W: D (80%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: N, 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: N,

[switch to compact view]
Comments [show]
Publications
[hide] Edghill EL, Flanagan SE, Ellard S
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
Rev Endocr Metab Disord. 2010 Sep;11(3):193-8., [PMID:20922570]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Riveline JP, Rousseau E, Reznik Y, Fetita S, Philippe J, Dechaume A, Hartemann A, Polak M, Petit C, Charpentier G, Gautier JF, Froguel P, Vaxillaire M
Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations.
Diabetes Care. 2012 Feb;35(2):248-51. Epub 2011 Dec 30., [PMID:22210575]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Feng Y, Mao G, Ren X, Xing H, Tang G, Li Q, Li X, Sun L, Yang J, Ma W, Wang X, Xu X
Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients.
Diabetes Care. 2008 Oct;31(10):1939-44. Epub 2008 Jul 3., [PMID:18599530]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Tarasov AI, Nicolson TJ, Riveline JP, Taneja TK, Baldwin SA, Baldwin JM, Charpentier G, Gautier JF, Froguel P, Vaxillaire M, Rutter GA
A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults.
Diabetes. 2008 Jun;57(6):1595-604. Epub 2008 Mar 17., [PMID:18346985]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Haghverdizadeh P, Sadat Haerian M, Haghverdizadeh P, Sadat Haerian B
ABCC8 genetic variants and risk of diabetes mellitus.
Gene. 2014 Jul 25;545(2):198-204. doi: 10.1016/j.gene.2014.04.040. Epub 2014 Apr 21., [PMID:24768178]

Abstract [show]
Comments [show]
Sentences [show]