ABCC7 p.Ser549Cys

ClinVar: c.1647T>G , p.Ser549Arg D , Pathogenic
c.1645A>C , p.Ser549Arg D , Pathogenic
c.1646G>T , p.Ser549Ile D , Pathogenic
CF databases: c.1646G>A , p.Ser549Asn D , CF-causing ; CFTR1:
c.1645A>C or c.1647T>G , p.Ser549Arg D , CF-causing ; CFTR1: ; CFTR1: The CF chromosome with this mutation is carried by a non-Ashkenazic Jewish patient in Morocco. The chromosome also has the B haplotype. Detection of this mutation may be achieved by ASO hybridization or allele-specific PCR.
c.1646G>T , p.Ser549Ile (CFTR1) ? , This mutation destroys a Ddel site, similar to G549N, and therefore one cannot distinguish the two by Ddel digestion.
Predicted by SNAP2: A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (59%), K: D (95%), L: D (95%), M: D (95%), N: N (72%), P: D (95%), Q: D (95%), R: N (57%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, T: D, V: D, W: D, Y: D,

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[hide] Frelet A, Klein M
Insight in eukaryotic ABC transporter function by mutation analysis.
FEBS Lett. 2006 Feb 13;580(4):1064-84. Epub 2006 Jan 19., 2006-02-13 [PMID:16442101]

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[hide] Vergani P, Basso C, Mense M, Nairn AC, Gadsby DC
Control of the CFTR channel's gates.
Biochem Soc Trans. 2005 Nov;33(Pt 5):1003-7., [PMID:16246032]

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[hide] Mense M, Vergani P, White DM, Altberg G, Nairn AC, Gadsby DC
In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer.
EMBO J. 2006 Oct 18;25(20):4728-39. Epub 2006 Oct 12., 2006-10-18 [PMID:17036051]

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[hide] Wang X, Bompadre SG, Li M, Hwang TC
Mutations at the signature sequence of CFTR create a Cd(2+)-gated chloride channel.
J Gen Physiol. 2009 Jan;133(1):69-77., [PMID:19114635]

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[hide] Chaves LA, Gadsby DC
Cysteine accessibility probes timing and extent of NBD separation along the dimer interface in gating CFTR channels.
J Gen Physiol. 2015 Apr;145(4):261-83. doi: 10.1085/jgp.201411347., [PMID:25825169]

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