ABCC7 p.Glu116Arg

ClinVar: c.346G>A , p.Glu116Lys ? , not provided
c.346G>C , p.Glu116Gln ? , not provided
CF databases: c.346G>A , p.Glu116Lys (CFTR1) D , A missense mutation in exon 4 of the CFTR gene was detected by DGGE and identified by direct sequencing. The nucleotide position 478 is chnaged from G to A, leading to a subsitution of glutamic acid for lysine at position 116. This mutation abolishes a MnI restriction site. The mutation on the other chromosome is the deletion of [delta]F508
c.346G>C , p.Glu116Gln (CFTR1) ? , This mutation was detected in a thirty year old male with UAVD by multiplex heteroduplex analysis on the MDE gel matrix and direct sequencing. The patient was also heterozygous for the [delta]F508 mutation. Clinical Data: UAVD, borderline sweat test, chronic sinusitis
Predicted by SNAP2: A: N (72%), C: D (59%), D: N (87%), F: D (71%), G: N (61%), H: D (63%), I: N (61%), K: N (61%), L: N (57%), M: D (63%), N: N (78%), P: N (57%), Q: N (82%), R: N (57%), S: N (78%), T: N (78%), V: N (66%), W: D (75%), Y: D (66%),
Predicted by PROVEAN: A: N, C: D, D: N, F: D, G: N, H: N, I: N, K: N, L: D, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: D,

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[hide] Cui G, Rahman KS, Infield DT, Kuang C, Prince CZ, McCarty NA
Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR.
J Gen Physiol. 2014 Aug;144(2):159-79. doi: 10.1085/jgp.201311122. Epub 2014 Jul 14., [PMID:25024266]

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