ABCC8 p.Gly1381Ser
| Predicted by SNAP2: | A: D (75%), C: D (91%), D: D (91%), E: D (95%), F: D (95%), H: D (91%), I: D (95%), K: D (95%), L: D (95%), M: D (91%), N: D (85%), P: D (95%), Q: D (91%), R: D (95%), S: D (85%), T: D (91%), V: D (91%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Potassium channel regulation. EMBO Rep. 2003 Nov;4(11):1038-42. Campbell JD, Sansom MS, Ashcroft FM
Potassium channel regulation.
EMBO Rep. 2003 Nov;4(11):1038-42., [PMID:14593442]
Abstract [show]
The sulphonylurea receptor (SUR) is a member of the ATP-binding cassette (ABC) family of membrane proteins. It functions as the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which comprises SUR and Kir6.x proteins. Here, we review data demonstrating functional differences between the two nucleotide binding domains (NBDs) of SUR1. In addition, to explain the structural basis of these functional differences, we have constructed a molecular model of the NBD dimer of human SUR1. We discuss the experimental data in the context of this model, and show how the model can be used to design experiments aimed at elucidating the relationship between the structure and function of the KATP channel.
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No. Sentence Comment
107 Although some of these mutations prevent targeting of the protein to the plasma membrane, others, such as G1381S, R1420C, E1506K and L1551V (Fig. 3) cause CHI by impairing KATP channel activation in response to metabolic inhibition or MgADP (Huopio et al., 2000).
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ABCC8 p.Gly1381Ser 14593442:107:106
status: NEW113 A similar argument can be made for the CHI mutation G1381S, which lies within the WA motif of NBD2, and might therefore influence nucleotide binding at site 2 and so prevent channel activation by MgADP (Shyng et al., 1998).
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ABCC8 p.Gly1381Ser 14593442:113:52
status: NEW117 Site 1 Site 2 NDB1 NDB2 G1381S E1506K L1551V R1402C Fig. 3 | Location of congenital hyperinsulinism mutations in the nucleotide-binding domains of sulphonylurea receptor SUR1.
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ABCC8 p.Gly1381Ser 14593442:117:24
status: NEW