PMID: 1375960

Cuthbert AW
The biochemical defect in cystic fibrosis.
J R Soc Med. 1992;85 Suppl 19:2-5., [PubMed]
Sentences
No. Mutations Sentence Comment
70 ABCC7 p.Lys335Glu
X
ABCC7 p.Lys335Glu 1375960:70:40
status: NEW
view ABCC7 p.Lys335Glu details
ABCC7 p.Lys95Asp
X
ABCC7 p.Lys95Asp 1375960:70:9
status: NEW
view ABCC7 p.Lys95Asp details
 Changing lysine 95 to aspartic acid and lysine 335 to glutamic acid alters the selectivity of the chloride conductance fiom chloride>iodide to iodide>chloride When the R-domain was deleted the CFTR chloride conductance was increased in the unstimulated state (ie absence ofcAMP) suggesting that the R-domain is involved in thegatingofthe ion channeL A similar mechanism has beenproposedfor the gating ofpotassium channels. Login to comment