ABCMdb

PMID: 7524909

Schaedel C, Kristoffersson AC, Kornfalt R, Holmberg L
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
Hum Mol Genet. 1994 Jun;3(6):1001-2., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCC7 p.Tyr109Cys 6 -1002 A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR Charlotta Schaedel*, Ann-Charlotte Kristoffersson, Ragnhild Kornfalt and Lars Holmberg Department of Paediatrics, University Hospital, S-221 85 Lund, Sweden Received February 3, 1994; Revised and Accepted March 22, 1994 Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which forms a cAMP-regulated chloride channel. Login to comment 18 ABCC7 p.Tyr109Cys ABCC7 p.Tyr109Cys An A -G transition was found in exon 4 at nucleotide position 458 converting tyrosine 109 to cysteine (Y109C) (Fig. Login to comment 22 ABCC7 p.Tyr109Cys The patient also had a 3659delC mutation in exon 19 like her mother, who lacked Y109C. Login to comment 25 ABCC7 p.Tyr109Cys We can thus conclude that among the two mutations detected in our patient Y109C should be the mutation conferring pancreatic sufficiency. Login to comment 26 ABCC7 p.Tyr109Cys The Y109C substitution occurs in the first transmembrane domain of CFTR in a 15 amino acid residue sequence that is located between the first and second membrane-spanning segments and predicted to be at the external side of the membrane (9). Login to comment 27 ABCC7 p.Arg117His ABCC7 p.Asp110His Two other substitution mutations, D110H and R117H, have been reported in the same sequence (3). Login to comment 28 ABCC7 p.Arg117His At least R117H has been implicated in pancreatic sufficient cystic fibrosis. Login to comment 31 ABCC7 p.Tyr109Cys The Y109C substitution does not alter a charge, which suggests that conformational transitions imposed by changes of single structural elements in the 15 residue sequence can have a substantial effect on channel properties. Login to comment 36 ABCC7 p.Tyr109Cys At position 458 there is a G in addition to an A convening tyrosine 109 to cysteine in one allele. Login to comment