ABCC6 p.Glu125Lys

LOVD-ABCC6: p.Glu125* D
p.Glu125Lys D
Predicted by SNAP2: A: D (80%), C: D (66%), D: D (75%), F: D (85%), G: D (85%), H: D (80%), I: D (85%), K: D (91%), L: D (85%), M: D (85%), N: D (75%), P: D (95%), Q: D (85%), R: D (91%), S: D (85%), T: D (85%), V: D (85%), W: D (95%), Y: D (85%),
Predicted by PROVEAN: A: D, C: D, D: N, 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] Miksch S, Lumsden A, Guenther UP, Foernzler D, Christen-Zach S, Daugherty C, Ramesar RK, Lebwohl M, Hohl D, Neldner KH, Lindpaintner K, Richards RI, Struk B
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Hum Mutat. 2005 Sep;26(3):235-48., [PMID:16086317]

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[hide] Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
Hum Mutat. 2008 Jan;29(1):205., [PMID:18157818]

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[hide] De Zaeytijd J, Vanakker OM, Coucke PJ, De Paepe A, De Laey JJ, Leroy BP
Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum.
Br J Ophthalmol. 2010 Apr;94(4):479-86. Epub 2009 Sep 1., [PMID:19726431]

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[hide] Cuviello F, Tellgren-Roth A, Lara P, Ruud Selin F, Monne M, Bisaccia F, Nilsson I, Ostuni A
Membrane insertion and topology of the amino-terminal domain TMD0 of multidrug-resistance associated protein 6 (MRP6).
FEBS Lett. 2015 Dec 21;589(24 Pt B):3921-8. doi: 10.1016/j.febslet.2015.10.030. Epub 2015 Nov 3., [PMID:26545497]

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