ABCC7 p.Leu863Ala
Predicted by SNAP2: | A: N (53%), C: N (57%), D: D (80%), E: D (75%), F: N (72%), G: D (71%), H: D (75%), I: N (87%), K: D (80%), M: N (72%), N: D (71%), P: D (80%), Q: D (66%), R: D (80%), S: D (63%), T: D (63%), V: N (82%), W: D (75%), Y: D (63%), |
Predicted by PROVEAN: | A: N, C: N, D: D, E: D, F: N, G: N, H: D, I: N, K: 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] Identification of a region of strong discriminatio... Am J Physiol Lung Cell Mol Physiol. 2001 Oct;281(4):L852-67. McCarty NA, Zhang ZR
Identification of a region of strong discrimination in the pore of CFTR.
Am J Physiol Lung Cell Mol Physiol. 2001 Oct;281(4):L852-67., [PMID:11557589]
Abstract [show]
The variety of methods used to identify the structural determinants of anion selectivity in the cystic fibrosis transmembrane conductance regulator Cl(-) channel has made it difficult to assemble the data into a coherent framework that describes the three-dimensional structure of the pore. Here, we compare the relative importance of sites previously studied and identify new sites that contribute strongly to anion selectivity. We studied Cl(-) and substitute anions in oocytes expressing wild-type cystic fibrosis transmembrane conductance regulator or 12-pore-domain mutants to determine relative permeability and relative conductance for 9 monovalent anions and 1 divalent anion. The data indicate that the region of strong discrimination resides between T338 and S341 in transmembrane 6, where mutations affected selectivity between Cl(-) and both large and small anions. Mutations further toward the extracellular end of the pore only strongly affected selectivity between Cl(-) and larger anions. Only mutations at S341 affected selectivity between monovalent and divalent anions. The data are consistent with a narrowing of the pore between the extracellular end and a constriction near the middle of the pore.
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No. Sentence Comment
391 L863A (23), as if this locus controlled the functional pore diameter.
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ABCC7 p.Leu863Ala 11557589:391:0
status: NEW