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 MSD7 domain:

cDNA Name Protein Name Legacy Name Region Description Consequence
c.2770G>A p.Asp924Asn D924N exon 17 G to A at 2902 Asp to Asn at 924
c.2770G>T p.Asp924Tyr D924Y exon 17 2902G>T
c.2775_2776delTT p.Leu926AlafsX48 2907delTT exon 17 deletion of TT from 2907 frameshift
c.2777delT p.Leu926CysfsX16 2909delT exon 17 deletion of T at 2909 frameshift
c.2778G>T p.Leu926Phe exon 17
c.2780T>C p.Leu927Pro L927P exon 17 T to C at 2912 Leu to Pro at 927
c.2782G>C p.Ala928Pro
c.2789G>A p.Gly930Glu
c.2789delG p.Gly930AspfsX12
c.2795T>C p.Phe932Ser F932S exon 17 T to C at 2927 Phe to Ser at 932
c.2797A>G p.Arg933Gly R933G exon 17 A to G at 2929 Arg to Gly at 933
c.2799A>T p.Arg933Ser R933S exon 17 A to T at 2931 Arg to Ser at 933 (CBAVD)
c.2803_2813delCTACCACTGGT p.Leu935AlafsX36 exon 17
c.2805_2810delinsTCAGA p.Leu941X exon 17
c.2806C>A p.Pro936Thr exon 17
c.2808A>G 2940A/G exon 17 A or G at 2940 sequence variation
c.2810_2811insT p.Val938GlyfsX37 2942insT exon 17 insertion of T at 2942 frameshift resulting in premature termination at codon 974
c.2812G>C p.Val938Leu V938L exon 17 G to C at 2944 Val to Leu at 938
c.2812dupG p.Val938GlyfsX37
c.2813T>G p.Val938Gly V938G exon 17 T to G at 2945 Val to Gly at 938 (CAVD)
c.2815C>G p.His939Asp H939D exon 17 C to G at 2947 His to Asp at 939
c.2816_2817delATinsC p.His439ProfsX 2948AT- >C exon 17 AT to C at 2948 frameshift resulting in premature termination at 2953
c.2816A>G p.His939Arg H939R exon 17 A to G at 2948 His to Arg at 939
c.2820T>C p.Thr940Thr exon 17
c.2825delT p.Ile942ThrfsX26 2957delT exon 17 2957delT

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The Database was last updated at Apr 25, 2011