ABCC7 p.Asp110Cys

ClinVar: c.328G>C , p.Asp110His D , Pathogenic
c.328G>T , p.Asp110Tyr ? , not provided
c.330C>A , p.Asp110Glu ? , not provided
CF databases: c.328G>C , p.Asp110His D , CF-causing ; CFTR1:
c.330C>A , p.Asp110Glu (CFTR1) ? , This mutation was detected by DGGE analysis followed by direct sequencing in two CF infants, a girl carrying [delta]F508 in the other chromosome and a boy carrying G542X in the other chromosome, both of Southern Italian origin (Sicilia region). It was never found in other 800 Italian CF chromosomes and in 100 control chromosomes from Italian population. The girl was diagnosed because of positive neonatal screening (persistent neonatal hypertrypsinemia), sweat chloride was 42, 57, and 68 mEq/l on repeated tests. Delayed meconium emission. No respiratory symptoms, pancreatic sufficiency and normal growth at 6 months. The boy presented at 6 months because of metabolic alkalemic diselectrolitemia and bronchiolitis. Neonatal screening was negative. Sweat chloride was 80, 70, 59 and 88 mEq/l on repeated occasions. At 2.5yrs, he is pancreatic sufficient, his growth is in the normal range and he presents no respiratory problems. This mutation was also reported by Aquino et al. (22/02/2000): It abolishes a Scrf I site. This substitution involves a quite conserved residue among species (N110 in the squale), in an intracellular loop. It doesn't affect the charge of the CFTR protein. It was found in an Italian CF patient with pancreatic sufficiency and bearing [delta]F508 on the other chromosome. No other mutation was found after analysis of 14 exons. The deleterious effect of D110E remains to be demonstrated.
c.328G>T , p.Asp110Tyr (CFTR1) D , This mutation was found by SSCA and direct DNA sequencing in a CBAVD patient. (reported in Human Reproduction (2000) 15, 1476-1483).
c.328G>A , p.Asp110Asn (CFTR1) ? ,
Predicted by SNAP2: A: D (91%), C: D (91%), E: D (85%), F: D (95%), G: D (95%), H: D (63%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (85%), P: D (95%), Q: D (95%), R: D (95%), S: D (85%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: N, C: D, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: D, Q: N, R: N, S: N, T: N, V: N, W: D, Y: N,

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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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[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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