ABCC7 p.Thr910Asn
| Predicted by SNAP2: | A: N (72%), C: N (61%), D: N (53%), E: N (57%), F: N (57%), G: N (61%), H: N (57%), I: N (61%), K: N (53%), L: N (61%), M: N (57%), N: N (82%), P: N (61%), Q: N (78%), R: N (57%), S: N (87%), V: N (66%), W: D (63%), Y: N (66%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, V: N, W: N, Y: N, |
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[hide] A novel CFTR disease-associated mutation causes ad... Glycoconj J. 2000 Nov;17(11):807-13. Hammerle MM, Aleksandrov AA, Chang XB, Riordan JR
A novel CFTR disease-associated mutation causes addition of an extra N-linked oligosaccharide.
Glycoconj J. 2000 Nov;17(11):807-13., [PMID:11443282]
Abstract [show]
We have examined the influence of a novel missense mutation in the fourth extracytoplasmic loop (EL4) of CFTR detected in a patient with cystic fibrosis. This substitution (T908N) creates a consensus sequence (N X S/T) for addition of an N-linked oligosaccharide chain near the C-terminal end of EL4. Oligosaccharyl transferase generally does not have access to this consensus sequence if it is closer than about twelve amino acids from the membrane. However, the T908N site is used, even though it is within four residues of the predicted membrane interface and the oligosaccharide chain added binds calnexin, a resident chaperone of the ER membrane. The chloride channel activity of this variant CFTR is abnormal as evidenced by a reduced rate of (36)Cl(-) efflux and a noisy single channel open state. This may reflect some displacement of the membrane spanning sequence C-terminal of EL4 since it contains residues influencing the ion pore.
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No. Sentence Comment
23 Tel.: 480-301-6206; Fax: 480-301-7017; E-mail: riordan@mayo.edu N900D, T908N or T910N to produce a CFTR with different numbers or no consensus site for glycosylation on extracytoplasmic loop 4.
X
ABCC7 p.Thr910Asn 11443282:23:81
status: NEW90 However, the mobility of the T910N variant also is somewhat slower compared to wild-type suggesting that it also can serve as oligosaccharyl transferase acceptor.
X
ABCC7 p.Thr910Asn 11443282:90:29
status: NEW