The cystic fibrosis transmembrane conductance regulator (CFTR) is a 1480 amino acid membrane bound glycoprotein with a molecular mass of 170,000. It is a member of the ATP binding cassette (ABC)superfamily of proteins. The protein is comprised of two, six span membrane bound regions each connected to a nuclear binding factor which binds ATP. Between these two units is an R-domain which is comprised of many charged amino acids. The R-domain is a unique feature of CFTR within the ABC superfamily.

Put your mouse over the domain region in the following graph to view the summary of that domain, click to view the details.



19 % of the CFTR protein make up the twelve transmembrane domains (M1 - M12). These domains have been shown to be comprised of typical a-helical secondary structure. Many of the residues within these regions form the channel lining residues and have a major role in the regulation of pore function. Six positively charged residues within the transmembrane domains [K95 (M1), R134 (M2), R334 (M6), K335 (M6), R347 (M6) and R1030 (M10] that are well conserved across species. Two of these are associated with mutations causing CF, R334Q/W and R347C/H/L/P.

The mutations happenning in MSD2 domain:

cDNA Name Protein Name Legacy Name Region Description Consequence
c.488delA p.Lys163ArgfsX3
c.488A>C p.Lys163Thr K163T exon 4 620A>C
c.489G>A 621G- >A exon 4 G to A at 621 mRNA splicing defect
c.490A>G p.Thr164Ala T164A exon 5 622A>G
c.494delT p.Leu165X 624delT exon 5 deletion of T at 624 frameshift
c.494T>C p.Leu165Ser L165S exon 5 T to C at 626 Leu to Ser at 165
c.496A>G p.Lys166Glu K166Q exon 5 A to G at 628 Lys to Gln at 166
c.500T>G p.Leu167Arg exon 5
c.503C>T p.Ser168Leu
c.508C>T p.Arg170Cys R170C exon 5 C to T at 640 Arg to Cys at 170
c.508C>G p.Arg170Gly R170G exon 5 C to G at 640 Arg to Gly at 170
c.508_510delCGT p.Arg170del
c.509G>A p.Arg170His R170H exon 5 G to A at 641 Arg to His at 170
c.509G>G p.Arg170Arg
c.518_522delATAAA p.Ile175TyrfsX6 650delATAAA exon 5 Deletion of ATAAA at 650 Frameshift
c.523A>G p.Ile175Val I175V exon 5 A to G at 655 Ile to Val at 175
c.526delA p.Ser176ValfsX13 657delA exon 5 deletion of A at 657 frameshift
c.530T>C p.Ile177Thr I177T exon 5 T to C at 662 Ile to Thr at 177
c.531delT p.Ile177MetfsX12 663delT exon 5 deletion of T at 663 frameshift
c.531T>G p.Ile177Met I177M exon 5 663T>G
c.532G>A p.Gly178Arg G178R exon 5 G to A at 664 Gly to Arg at 178
c.533G>A p.Gly178Glu G178E exon 5 G to A at 665 Gly to Glu at 178
c.535C>A p.Gln179Lys Q179K exon 5 C to A at 667 Gln to Lys at 179
c.535C>T p.Gln179X
c.-530a>T
c.543_546delTAGT p.Leu183PhefsX5 675del4 exon 5 deletion of TAGT from 675 frameshift
c.544A>G p.Ser182Gly 676A/G exon 5 A or G at 676 sequence variation




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The Database was last updated at Apr 25, 2011