ABCMdb

ABCC7 p.Gln1309Ala

ClinVar:	c.3927G>T , p.Gln1309His ? , not provided
CF databases:	c.3925C>G , p.Gln1309Glu (CFTR1) ? , Probable polymorphism c.3927G>T , p.Gln1309His (CFTR1) ? , The mutation was identified in a CBAVD patient in cis with 4041_4046insTGT. Whether the two anomalies are related to the same mutational event was not sought. The complex allele was inherited from the mother. D1152H was identified in trans.
Predicted by SNAP2:	A: N (82%), C: N (93%), D: N (72%), E: N (97%), F: N (57%), G: N (61%), H: N (87%), I: N (66%), K: N (93%), L: N (66%), M: N (66%), N: N (82%), P: N (53%), R: N (97%), S: N (78%), T: N (78%), V: N (72%), W: N (53%), Y: N (66%),
Predicted by PROVEAN:	A: N, C: N, D: N, E: N, F: D, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, R: N, S: N, T: N, V: N, W: D, Y: N,

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Publications
[hide] Cystic fibrosis transmembrane conductance regulato... Cold Spring Harb Perspect Med. 2013 Feb 1;3(2):a009514. doi: 10.1101/cshperspect.a009514. Hunt JF, Wang C, Ford RC
Cystic fibrosis transmembrane conductance regulator (ABCC7) structure.
Cold Spring Harb Perspect Med. 2013 Feb 1;3(2):a009514. doi: 10.1101/cshperspect.a009514., [PMID:23378596]

Abstract [show]
Structural studies of the cystic fibrosis transmembrane conductance regulator (CFTR) are reviewed. Like many membrane proteins, full-length CFTR has proven to be difficult to express and purify, hence much of the structural data available is for the more tractable, independently expressed soluble domains. Therefore, this chapter covers structural data for individual CFTR domains in addition to the sparser data available for the full-length protein. To set the context for these studies, we will start by reviewing structural information on model proteins from the ATP-binding cassette (ABC) transporter superfamily, to which CFTR belongs.

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Sentences [show]
No. Sentence Comment
290 Two additional "surface entropy reduction" mutations (E1308A/ Q1309A) were introduced into the construct to promote crystallization. Login to comment