ABCC9 p.Thr1547Ile

ClinVar: c.4640C>T , p.Thr1547Ile D , Pathogenic
Predicted by SNAP2: A: N (78%), C: D (53%), D: D (71%), E: N (61%), F: D (63%), G: N (61%), H: N (66%), I: N (61%), K: N (78%), L: N (53%), M: N (61%), N: D (59%), P: D (71%), Q: N (93%), R: N (53%), S: N (87%), V: N (61%), W: D (66%), Y: D (63%),
Predicted by PROVEAN: A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, V: N, W: D, Y: N,

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[hide] Olson TM, Terzic A
Human K(ATP) channelopathies: diseases of metabolic homeostasis.
Pflugers Arch. 2010 Jul;460(2):295-306. Epub 2009 Dec 24., [PMID:20033705]

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[hide] Burke MA, Mutharasan RK, Ardehali H
The sulfonylurea receptor, an atypical ATP-binding cassette protein, and its regulation of the KATP channel.
Circ Res. 2008 Feb 1;102(2):164-76., [PMID:18239147]

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[hide] Olson TM, Alekseev AE, Moreau C, Liu XK, Zingman LV, Miki T, Seino S, Asirvatham SJ, Jahangir A, Terzic A
KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.
Nat Clin Pract Cardiovasc Med. 2007 Feb;4(2):110-6., [PMID:17245405]

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[hide] Park S, Terzic A
Quaternary structure of KATP channel SUR2A nucleotide binding domains resolved by synchrotron radiation X-ray scattering.
J Struct Biol. 2010 Feb;169(2):243-51. doi: 10.1016/j.jsb.2009.11.005. Epub 2009 Nov 15., [PMID:19919849]

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[hide] Nelson PT, Jicha GA, Wang WX, Ighodaro E, Artiushin S, Nichols CG, Fardo DW
ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target.
Ageing Res Rev. 2015 Nov;24(Pt B):111-25. doi: 10.1016/j.arr.2015.07.007. Epub 2015 Jul 28., [PMID:26226329]

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