ABCC7 p.Glu92Cys

ClinVar: c.274G>T , p.Glu92* D , Pathogenic
c.276A>T , p.Glu92Asp ? , not provided
c.274G>A , p.Glu92Lys D , Pathogenic
CF databases: c.274G>T , p.Glu92* D , CF-causing
c.274G>A , p.Glu92Lys D , CF-causing ; CFTR1: E92K was detected in one Spanish chromosome out of 100 non-[delta]F508 chromosomes studied. The mutation on the other chromosome of this patient is unknown, but has the haplotype C/D. The mutation has been detected by SSCP analysis of exon 4 PCR product using intronic primers. Th ebase change has been confirmed after recovering the mutated strand from the SSCP gel, purified and directly sequenced using an automatic sequencer.
c.276A>T , p.Glu92Asp (CFTR1) ? , The patient carries two other mutations: 3849+10kbC>T and R668C (2134C>T). Although segregation analysis was not performed, we suggest the putative 3849+10kbC>T;R668C/E92D compound genotype in the patient, as we already found the complex allele 3849+10kbC>T;R668C in another patient. Residue E92 is conserved between species but not in other proteins of the CFTR family, where Asp can be found instead. A mild splicing effect of the mutation is also possible.
Predicted by SNAP2: A: D (91%), C: D (95%), D: D (91%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: N (53%), L: D (95%), M: D (91%), N: D (95%), P: D (95%), Q: D (85%), R: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: N, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: N, P: D, Q: N, R: D, S: N, T: D, V: D, W: D, Y: D,

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[hide] Wang W, El Hiani Y, Linsdell P
Alignment of transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.
J Gen Physiol. 2011 Aug;138(2):165-78. Epub 2011 Jul 11., [PMID:21746847]

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[hide] Gao X, Bai Y, Hwang TC
Cysteine scanning of CFTR's first transmembrane segment reveals its plausible roles in gating and permeation.
Biophys J. 2013 Feb 19;104(4):786-97. doi: 10.1016/j.bpj.2012.12.048., [PMID:23442957]

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