ABCMdb

ABCC7 p.Asn1148Ser

ClinVar:	c.3444C>A , p.Asn1148Lys ? , not provided c.3443A>G , p.Asn1148Ser ? , not provided
CF databases:	c.3443A>G , p.Asn1148Ser (CFTR1) ? , c.3444C>A , p.Asn1148Lys (CFTR1) ? , This mutation was found by DGGE and direct DNA sequencing in a child with bronchiectasis and sweat test borderline.
Predicted by SNAP2:	A: D (66%), C: D (66%), D: D (80%), E: D (80%), F: D (75%), G: D (75%), H: D (80%), I: D (66%), K: D (63%), L: D (71%), M: D (71%), P: D (85%), Q: D (63%), R: D (66%), S: D (63%), T: D (66%), V: D (63%), W: D (91%), Y: D (80%),
Predicted by PROVEAN:	A: N, C: D, D: N, E: N, F: D, 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: D, Y: N,

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Publications
[hide] Membrane-integration characteristics of two ABC tr... J Mol Biol. 2009 Apr 17;387(5):1153-64. Epub 2009 Feb 21. Enquist K, Fransson M, Boekel C, Bengtsson I, Geiger K, Lang L, Pettersson A, Johansson S, von Heijne G, Nilsson I
Membrane-integration characteristics of two ABC transporters, CFTR and P-glycoprotein.
J Mol Biol. 2009 Apr 17;387(5):1153-64. Epub 2009 Feb 21., [PMID:19236881]

Abstract [show]
To what extent do corresponding transmembrane helices in related integral membrane proteins have different membrane-insertion characteristics? Here, we compare, side-by-side, the membrane insertion characteristics of the 12 transmembrane helices in the adenosine triphosphate-binding cassette (ABC) transporters, P-glycoprotein (P-gp) and the cystic fibrosis transmembrane conductance regulator (CFTR). Our results show that 10 of the 12 CFTR transmembrane segments can insert independently into the ER membrane. In contrast, only three of the P-gp transmembrane segments are independently stable in the membrane, while the majority depend on the presence of neighboring loops and/or transmembrane segments for efficient insertion. Membrane-insertion characteristics can thus vary widely between related proteins.

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Sentences [show]
No. Sentence Comment
147 To remove the endogenous glycosylation acceptor sites of CFTR near TM7CFTR and TM12CFTR , Asn894-Ser-Thr, Asn900-Asn- Ser, Asn1148-Ser-Ser, and Asn1229-Ile-Ser were mutated to Asn894-Ser-Gly, Ser900-Asn-Ser, Asn1148-Ser-Gly, and Gln1229-Ile-Ser, respectively. Login to comment
143 To remove the endogenous glycosylation acceptor sites of CFTR near TM7CFTR and TM12CFTR , Asn894-Ser-Thr, Asn900-Asn- Ser, Asn1148-Ser-Ser, and Asn1229-Ile-Ser were mutated to Asn894-Ser-Gly, Ser900-Asn-Ser, Asn1148-Ser-Gly, and Gln1229-Ile-Ser, respectively. Login to comment