ABCMdb

PMID: 8829633

Nasr SZ, Strong TV, Mansoura MK, Dawson DC, Collins FS
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
Hum Mutat. 1996;7(2):151-4., [PubMed]

Sentences

No. Mutations Sentence Comment

35 ABCC7 p.Gly314Arg ABCC7 p.Gly314Arg This substitution resulted in the change of arginine for glycine at position 314 (G314R), which, according to the predicted topology of CFTR, lies in the Shputative membrane spanning segment. Login to comment 36 ABCC7 p.Gly314Arg The substitution of arginine for glycine at 314 results in elimination of a DdeI site. Login to comment 44 ABCC7 p.Gly314Arg The G314R mutation was identified as maternal (Fig. Login to comment 47 ABCC7 p.Gly314Arg A total of 35 oocytes from 10 different frogs were assayed in 10 different rounds of injection with G314R CFTR. Login to comment 51 ABCC7 p.Gly314Arg ABCC7 p.Gly314Arg Because the results with G314R were largely negative, we also compared CAMP-induced C1 currents in oocytes expressing CFTRs in which 255bp I WT F / S F T T m G G Ddel 9bp 139bp 270bp I G314R F/S\B 1-1 I TlCTCAcGG FIGUREI. Login to comment 56 ABCC7 p.Gly314Glu ABCC7 p.Gly314Ala CFTR constructs bearing either the G314A or G314E substitution were associated with readily discernable CAMP-induced C1 currents. Login to comment 57 ABCC7 p.Gly314Glu The G314E substitution has been associated with cystic fibrosis (GollaL et al., 1994). Login to comment 61 ABCC7 p.Gly314Arg This mutation was not found in 25 normal c.hromosomes and 25 CF NOVEL MISSENSE MUTATION (G314R)IN CFTR 153 700.00 - 600.00 500.00 2 400.00 > E @ E 200.00 8 300.00 - 100.00 0.00 -100.00 ~ "- -- -- -- -- -- -. Login to comment 64 ABCC7 p.Gly314Arg Shown are records from oocytes previously injected with mRNA transcribed from wild-type (-A-)and G314R (-0-1CFTR along with a record from an uninjected oocyte (-O-).In each case, the current followingremoval of the stimulating cocktail. Login to comment 68 ABCC7 p.Gly314Arg ABCC7 p.Gly314Arg The substitution of G to C results in a glycine to arginine substitution at amino acid 314 (G314R). Login to comment 73 ABCC7 p.Gly314Glu ABCC7 p.Gly314Ala Cyclic AMP-activated C1 currents were only barely detectable with this construct, whereas wt and AF508 CFTR, as well as variants bearing more conservative substitutions at the same site (G314A and G314E), were associated with the expression of significant C1 channel function. Login to comment 74 ABCC7 p.Gly314Arg Reduced expression of CFTR C1 channel function for G314R could arise in at least two ways that are not mutually exclusive. Login to comment 79 ABCC7 p.Gly314Arg Regardless of the mechanism, the combination of genetic and functional data presented here leaves little doubt that the G314R mutation is the cause of near total absence of CFTR C1 function and severe clinical disease in this patient. Login to comment