ABCC7 p.His1375Ala

ClinVar: c.4123C>A , p.His1375Asn ? , not provided
c.4124A>C , p.His1375Pro ? , not provided
CF databases: c.4123C>A , p.His1375Asn (CFTR1) ? , Exon 22
c.4124A>C , p.His1375Pro (CFTR1) ? , This mutation was identified on 3 Italian CF chromosomes, applying a protocol of extended mutational search (5?-flanking region, all the exons and adjacent intronic regions) by DHPLC and direct sequencing. No other mutations were found on the same alleles. The H1375P mutation was not found in 232 alleles from the general population. In two of the subjects carrying this mutation and sharing the same regional origin, the 2789+5GtoA was found on both other alleles. In the other subject the G85E was found.
Predicted by SNAP2: A: N (61%), C: D (53%), D: D (66%), E: D (66%), F: N (57%), G: N (53%), I: N (53%), K: D (59%), L: N (53%), M: D (53%), N: N (93%), P: D (75%), Q: N (53%), R: D (59%), S: N (72%), T: N (57%), V: N (53%), W: D (66%), Y: N (72%),
Predicted by PROVEAN: A: N, C: N, D: N, E: N, F: N, G: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: N,

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[hide] Szollosi A, Muallem DR, Csanady L, Vergani P
Mutant cycles at CFTR's non-canonical ATP-binding site support little interface separation during gating.
J Gen Physiol. 2011 Jun;137(6):549-62. doi: 10.1085/jgp.201110608. Epub 2011 May 16., [PMID:21576373]

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