ABCC7 p.Asn900Ala

ClinVar: c.2700T>A , p.Asn900Lys D , Pathogenic
CF databases: c.2699A>C , p.Asn900Thr (CFTR1) ? , Asymptomatic subject
Predicted by SNAP2: A: N (66%), C: D (53%), D: N (53%), E: N (66%), F: D (71%), G: N (61%), H: N (66%), I: D (59%), K: N (66%), L: N (53%), M: D (53%), P: D (53%), Q: N (66%), R: N (53%), S: N (72%), T: N (78%), V: N (53%), W: D (80%), Y: D (75%),
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, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Farinha CM, Amaral MD
Most F508del-CFTR is targeted to degradation at an early folding checkpoint and independently of calnexin.
Mol Cell Biol. 2005 Jun;25(12):5242-52., [PMID:15923638]

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[hide] Pitonzo D, Yang Z, Matsumura Y, Johnson AE, Skach WR
Sequence-specific retention and regulated integration of a nascent membrane protein by the endoplasmic reticulum Sec61 translocon.
Mol Biol Cell. 2009 Jan;20(2):685-98. Epub 2008 Nov 19., [PMID:19019984]

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