PMID: 10792060

Ostedgaard LS, Baldursson O, Vermeer DW, Welsh MJ, Robertson AD
A functional R domain from cystic fibrosis transmembrane conductance regulator is predominantly unstructured in solution.
Proc Natl Acad Sci U S A. 2000 May 9;97(10):5657-62., 2000-05-09 [PubMed]
Sentences
No. Mutations Sentence Comment
26 ABCC7 p.Ser660Ala
X
ABCC7 p.Ser660Ala 10792060:26:36
status: NEW
view ABCC7 p.Ser660Ala details
ABCC7 p.Ser660Ala
X
ABCC7 p.Ser660Ala 10792060:26:85
status: NEW
view ABCC7 p.Ser660Ala details
An example is CFTR-⌬R͞ S660A, in which residues 708-835 are deleted and Ser-660 is mutated to alanine (12, 19, 23). Login to comment
46 ABCC7 p.Ser660Ala
X
ABCC7 p.Ser660Ala 10792060:46:22
status: NEW
view ABCC7 p.Ser660Ala details
10 ͉ 5657-5662 S660A in lipid bilayers (13, 14). Login to comment
198 ABCC7 p.Glu826Lys
X
ABCC7 p.Glu826Lys 10792060:198:57
status: NEW
view ABCC7 p.Glu826Lys details
ABCC7 p.Glu822Lys
X
ABCC7 p.Glu822Lys 10792060:198:46
status: NEW
view ABCC7 p.Glu822Lys details
ABCC7 p.Arg792Gly
X
ABCC7 p.Arg792Gly 10792060:198:32
status: NEW
view ABCC7 p.Arg792Gly details
ABCC7 p.Ala800Gly
X
ABCC7 p.Ala800Gly 10792060:198:39
status: NEW
view ABCC7 p.Ala800Gly details
From this region, the mutations R792G, A800G, E822K, and E826K increase or decrease current, but have not been reported to alter channel properties (38, 39). Login to comment