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.



The R domain of CFTR is encoded by exon 13 and it spans the region between NBF1 and the second transmembrane region. It contains several potential sites for phosphorylation by cAMP dependent PKA or PKC. The activity of CFTR as an ion channel depends upon phosphorylation of the R domain and binding of ATP to the nuclear binding domains. The N terminal portion of the R domain (RD1) is highly conserved between species but there is a lower degree of conservation between the rest of the domain (RD2).

The mutations happenning in R domain domain:

cDNA Name Protein Name Legacy Name Region Description Consequence
c.1900C>T p.Gln634X Q634X exon 14 C to T at 2032 Gln to Stop at 634
c.1907T>C p.Leu636Pro L636P exon 14 T to C at 2039 Leu to Pro at 636
c.1909C>T p.Gln637X Q637X exon 14 C to T at 2041 Gln to Stop at 637
c.1911delG p.Gln637HisfsX26 2043delG exon 14 deletion of G at 2043 frameshift
c.1915G>T p.Asp639Tyr D639Y exon 14 G to T at 2047 Asp to Tyr at 639
c.1919_1920delTT p.Phe640X 2051delTT exon 14 deletion of TT from 2051 frameshift
c.1920_1921dupTA p.Ser641IlefsX23 exon 14
c.1920T>C p.Phe640Phe exon 14
c.1923_1931del9insA p.Ser641ArgfsX5 2055del9- >A exon 14 deletion of 9 bp CTCAAAACT to A at 2055 frameshift
c.1932C>G 2064C/G exon 14 C or G at 2064 sequence variation (Leu at 644 no change)
c.1950C>T 2082C/T exon 14 C or T at 2082 sequence variation (no change Phe at 650)
c.1951G>C p.Asp651His D651H exon 14 G to C at 2083 Asp to His at 651
c.1951G>A p.Asp651Asn D651N exon 14 G to A at 2083 Asp to Asn at 651
c.1960A>G p.Ser654Gly 2092A/G exon 14 A or G at 2092 sequence variation
c.1966G>T p.Glu656X E656X exon 14 G to T at 2098 Glu to Stop at 656
c.1972_1973insA p.Arg658LysfsX7 2104insA+ 2109- 2118del10 exon 14 insertion of A at 2104, deletion of 10bp at 2109 ?
c.1973_1985del13insAGAAA p.Arg658LysfsX4 2105- 2117del13insAGAAA exon 14 Deletion of 13 bp and insertion of AGAAA at 2105- 2117 Frameshift
c.1976delA p.Asn659IlefsX4 2108delA exon 14 deletion of A at 2108 frameshift
c.1978T>A p.Ser660Thr S660T exon 14 T to A at 2110 Ser to Thr a 660
c.1981delA p.Ile661SerfsX2 2113delA exon 14 deletion of A at 2113 frameshift
c.1984_1987delCTAA p.Thr663ArgfsX8 2116delCTAA exon 14 deletion of CTAA at 2116 frameshift
c.1986_1989delAACT p.Thr663ArgfsX8 2118del4 exon 14 deletion of AACT from 2118 frameshift
c.1990G>T p.Glu664X E664X exon 14 G to T at 2122 Glu to Stop at 664
c.1993A>T p.Thr665Ser T665S exon 14 A to T at 2125 Thr to Ser at 665
c.2002C>T p.Arg668Cys R668C exon 14 C or T at 2134 sequence variation
c.2009_2010insA p.Leu671IlefsX18 2141insA exon 14 insertion of A after 2141 frameshift
c.2012delT p.Leu671X 2143delT exon 14 deletion of T at 2143 frameshift
c.2013_2015delAGA p.Glu672del E672del exon 14 deletion of 3 bp between 2145- 2148 deletion of Glu at 672
c.2017G>T p.Gly673X G673X exon 14 G to T at 2149 Gly to Stop at 673
c.2021A>T p.Asp674Val D674V exon 14 A to T at 2153 Asp to Val at 674
c.2036G>A p.Trp679X W679X exon 14 G to A at 2168 Trp to Stop at 679
c.2044_2045insC p.Gln685ThrfsX4 2176insC exon 14 insertion of C after 2176 frameshift
c.2044delA p.Thr682GlnfsX40 exon 14
c.2048A>G p.Lys683Arg K683R exon 14 A to G at 2180 Lys to Arg at 683
c.2051_2052delAAinsG p.Lys684SerfsX38 2183AA- >G exon 14 A to G at 2183 and deletion of A at 2184 frameshift
c.2051_2052delAA p.Lys684ThrfsX4 2183delAA exon 14 deletion of AA at 2183 frameshift
c.2052A>G 2184A/G exon 14 A to G at 2184 no change
c.2052delA p.Lys684AsnfsX38 2184delA exon 14 deletion of A at 2184 frameshift
c.2052_2053insA p.Gln685ThrfsX4 2184insA exon 14 insertion of A after 2184 frameshift
c.2052dupA p.Gln685ThrfsX4
c.2053_2054insC p.Gln685ProfsX4 2185insC exon 14 insertion of C at 2185 frameshift
c.2053C>T p.Gln685X Q685X exon 14 C to T at 2185 Gln to Stop at 685
c.2057C>A p.Ser686Tyr S686Y exon 14 C to A at 2189 Ser to Tyr at 686
c.2061_2062insTTTT p.Lys688PhefsX? 2193ins4 exon 14 Insertion of 4T at 2193 Frameshift
c.2062A>T p.Lys688X K688X exon 14 A toT at 2194 Lys to Stop at 688
c.2065C>T p.Gln689X Q689X exon 14 C to T at 2197 Gln to Stop at 689
c.2068A>G p.Thr690Ala
c.2074G>T p.Glu692X E692X exon 14 G to T at 2206 Glu to Stop at 692
c.2077T>C p.Phe693Leu F693L(CTT) exon 14 T to C at 2209 Phe to Leu at 693
c.2079T>G p.Phe693Leu F693L(TTG) exon 14 T to G at 2211 Phe to Leu at 693
c.2083_2084insG p.Glu695GlyfsX35 2215insG exon 14 insertion of G at 2215 frameshift
c.2084A>G p.Glu695Gly
c.2087A>G p.Lys696Arg exon 14
c.2089_2090insA p.Arg697LysfsX33 2221insA exon 14 insertion of A at 2221 Frameshift a premature stop codon appears 33 codons further
c.2106C>G 2238C/G exon 14 C or G at 2238 sequence variation
c.2125C>T p.Arg709X R709X exon 14 C to T at 2257 Arg to Stop at 709
c.2126G>A p.Arg709Gln R709Q exon 14 G to A at 2258 Arg to Gln at 709
c.2128A>T p.Lys710X K710X exon 14 A to T at 2260 Lys to Stop at 710
c.2135C>G p.Ser712Cys S712C exon 14 C to G at 2267 Ser to Cys at 712
c.2143C>T p.Gln715X Q715X exon 14 C to T at 2275 Gln to Stop at 715
c.2145_2146delAAinsGT p.Lys716X K716X exon 14 AA to GT at 2277 and 2278 Lys to Stop at 716
c.2156T>A p.Leu719X L719X exon 14 T to A at 2288 Leu to Stop at 719
c.2157_2163delinsGT p.Gln720MetfsX11 2289- 2295del7bpinsGT exon 14 Deletion of 7 bp and insertion of GT at 2289- 2295 Frameshift
c.2158C>T p.Gln720X Q720X exon 14 C to T at 2290 Gln to Stop at 720
c.2168G>T p.Gly723Val G723V exon 14 G to T at 2300 Gly to Val at 723
c.2173G>A p.Glu725Lys E725K exon 14 G to A at 2305 Glu to Lys at 725
c.2175_2176insA p.Glu726ArgfsX4 2307insA exon 14 insertion of A after 2307 frameshift
c.2183_2184delinsG p.Ser728TrpfsX5
c.2188G>T p.Glu730X E730X exon 14 G to T at 2320 Glu to Stop at 730
c.2195T>G p.Leu732X L732X exon 14 T to G at 2327 Leu to Stop at 732
c.2203delA p.Arg735GlyfsX4 2335delA exon 14 deletion of A at 2335 frameshift
c.2204G>A p.Arg735Lys R735K exon 14 G to A at 2336 Arg to Lys at 735
c.2210C>T p.Ser737Phe S737F exon 14 C to T at 2342 missense
c.2210C>T p.Ser737Phe S737F exon 14 C to T at 2342 Ser to Phe at 737
c.2215delG p.Val739TyrfsX16 2347delG exon 14 deletion of G at 2347 frameshift
c.2233G>T p.Gly745X G745X(Gly745X) exon 14 G to T at 2365 Non-sense mutation
c.2240_2247delCGATACTG p.Ile748SerfsX28 2372del8 exon 14 deletion of 8 bp from 2372 frameshift
c.2245C>T 2377C/T exon 14 C or T at 2377 sequence variation (no change for Leu at 749)
c.2248_2255del p.Pro750GlnfsX26 2380_2387del exon 14 Deletion of 8 bp from 2380 Frameshift
c.2249C>T p.Pro750Leu P750L exon 14 C to T at 2381 Pro to Leu at 750
c.2251C>T p.Arg751Cys R751C exon 14 2383C>T
c.2252G>C p.Arg751Pro R751P exon 14 G to C at 2384 Arg to Pro at 751
c.2252G>T p.Arg751Leu
c.2255T>G p.Ile752Ser I752S exon 14 T to G at 2387 (ATC- >AGC) Ileu to Ser at 752
c.2259C>T No Changes 2391 C/T exon 14 2391 C>T Polymorphism
c.2259C>G p.Ser753Arg S753R exon 14 C to G at position 2391 Serine to arginine at 753
c.2259C>G p.Ser753Arg exon 14
c.2260G>A p.Val754Met V754M exon 14 G to A at 2392 Val to Met at 754
c.2276_2277delCC p.Pro759HisfsX19 2406delCC exon 14 deletion of CC at 2406 Frameshift
c.2277delC p.Thr760ArgfsX11 2409delC exon 14 Deletion of C at 2409 Frameshift
c.2279C>T p.Thr760Met T760M exon 14 C to T at 2411 Thr to Met at 760
c.2280G>A 2412G/A exon 14 G to A at 2412 Sequence variation?
c.2286G>T p.Gln762His 2418GG>T exon 14 G to T at 2418 missense
c.2290C>T p.Arg764X R764X exon 14 C to T at 2422 Arg to Stop at 764
c.2290_2300delCGAAGGAGGCA p.Arg764ValfsX11
c.2291delG p.Arg764GlnfsX7 2423delG exon 14 deletion of G at 2423 frameshift
c.2295G>T p.Arg765Ser exon 14
c.2297G>T p.Arg766Met R766M exon 14 G to T at 2429 Arg to Met at 766
c.2324_2325delAC p.His775LeufsX3 2456delAC exon 14 deletion of AC at 2456 frameshift
c.2327C>G p.Ser776X S776X exon 14 C to G at 2459 Ser to Stop at 776
c.2335C>T p.Gln779X
c.2341C>T p.Gln781X Q781X exon 14 C to T at 2473 Gln to Stop at 781
c.2346C>A p.Asn782Lys N782K exon 14 C to A at 2478 Asn to Lys at 782
c.2353C>T p.Arg785X R785X exon 14 C to T at 2485 Arg to Stop at 785
c.2361_2362ins8 p.Thr788fsX? 2493ins8 exon 14 insertion of 8bp after 2493 frameshift
c.2363C>T p.Thr788Ile T788I exon 14 C to T at 2495 Thr to Ile at 788
c.2374C>G p.Arg792Gly R792G exon 14 C to G at 2506 Arg to Gly at 792
c.2374C>T p.Arg792X R792X exon 14 C to T at 2506 Arg to Stop at 792
c.2380delG p.Val794CysfsX9 2512delG exon 14 Deletion of G at 2512 Frameshift
c.2390_2391insC p.Gln799SerfsX6 2522insC exon 14 insertion of C after 2522 frameshift
c.2392C>T p.Pro798Ser P798S exon 14 2524C>T
c.2399C>G p.Ala800Gly A800G exon 14 C to G at 2531 Ala to Gly at 800
c.2417A>G p.Asp806Gly D806G exon 14 A to G at 2549 Asp to Gly at 806
c.2419A>G p.Ile807Val I807V exon 14 A to G at 2551 Ile to Val at 807
c.2421A>G p.Ile807Met 2553A/G exon 14 A or G at 2553 sequence variation
c.2421A>G p.Ile807Met I807M exon 14 A or G at 2553 sequence variation
c.2424_2425insAT p.Ser809IlefsX13 2556insAT exon 14 insertion of AT after 2556 frameshift
c.2428A>G p.Arg810Gly R810G exon 14 A to G at 2560 Arg to Gly at 810
c.2433_2437delinsATA p.Leu812TyrfsX10 exon 14
c.2434_2435insT p.Leu812PhefsX11 2566insT exon 14 insertion of T after 2566 frameshift
c.2437T>C p.Ser813Pro S813P exon 14 T to C at 2569 Ser to Pro at 813
c.2440C>T p.Gln814X Q814X exon 14 C to T at 2572 Gln to Stop at 814
c.2443G>T p.Glu815X
c.2446delA p.Thr816LeufsX5
c.2450G>T p.Gly817Val exon 14
c.2453delT p.Leu818TrpfsX3 2585delT exon 14 deletion of T at 2585 stop codon at amino acid 820
c.2462_2463delGT p.Ser821ArgfsX4 exon 14
c.2464G>A p.Glu822Lys E822K exon 14 G to A at 2596 Glu to Lys at 822
c.2464G>T p.Glu822X E822X exon 14 G to T at 2596 Glu to Stop at 822
c.2467G>T p.Glu823X E823X exon 14 G to T at 2599 Glu to Stop at 823
c.2472delT p.Asn825ThrfsX5 2603delT exon 14 deletion of T at 2603/4 frameshift
c.2476G>A p.Glu826Lys E826K exon 14 G to A at 2608 Glu to Lys at 826
c.2473_2476dupAACG p.Glu827ArgfsX10
c.2479G>T p.Glu827X E827X exon 14 G to T at 2611 Glu to Stop at 827
c.2483A>G p.Asp828Gly D828G exon 14 A to G at 2615 Asp to Gly at 828
c.2487A>G L829L (2619A/G) exon 14 A or G at 2619 sequence variation
c.2488A>T p.Lys830X K830X exon 14 A to T at 2620 Lys to Stop at 830
c.2491G>T p.Glu831X E831X exon 15 G to T at 2623 Glu to Stop at 831
c.2493G>T p.Glu831Asp
c.2497T>C p.Phe833Leu
c.2502delT p.Phe834LeufsX10 2634delT exon 15 Deletion of T at 2634 frameshift
c.2502_2503insT p.Asp835X 2634insT exon 15 insertion of T after 2634 frameshift
c.2502T>G p.Phe834Leu exon 15
c.2506G>T p.Asp836Tyr D836Y exon 15 G to T at 2638 Asp to Tyr at 836
c.2508delT p.Asp836GlufsX8 2640delT exon 15 deletion of T at 2640 frameshift
c.2519T>C p.Ile840Thr I840T exon 15 T to C at 2651 Ile to Thr at 840
c.2522C>G p.Pro841Arg P841R exon 15 C to G at 2654 Pro to Arg at 841
c.2537G>A p.Trp846X W846X exon 15 G to A at 2669 Trp to Stop at 846
c.2538G>A p.Trp846X W846X (2670TGG>TGA) exon 15 G to A at 2670 Trp to Stop at 846
c.2547C>A p.Tyr849X Y849X exon 15 C to A at 2679 Tyr to Stop at 849
c.2551C>T p.Arg851X R851X exon 15 C to T at 2683 Arg to Stop at 851
c.2552G>T p.Arg851Leu R851L exon 15 G to T at 2684 Arg to Leu at 851
c.2554dupT p.Tyr852LeufsX44
c.2556T>G p.Tyr852X Y852X exon 15 T to G at 2688 Tyr to stop at 852 (Premature termination)
c.2559T>C 2691T/C exon 15 T or C at 2691 sequence variation
c.2562delT p.Val855SerfsX5 2694delT exon 15 deletion of T at 2694 frameshift
c.2562T>C 2694T/C exon 15 T or C at 2694 sequence variation
c.2562T>G 2694T/G exon 15 T or G at 2694 sequence variation
c.2563G>A p.Val855Ile V855I exon 15 G to A at 2695 Val to Ile at 855 (sequence variation?)
c.2566_2567insT p.His856LeufsX40 exon 15
c.2571G>A 2703G/A exon 15 G or A at 2703 sequence variation (Lys at 857 no change)
c.2583delT p.Phe861LeufsX3 2711delT exon 15 deletion of T at 2711 frameshift
c.2579T>C p.Ile860Thr I860T exon 15 2711T>C
c.2589_2599delAATTTGGTGCT p.Ile864SerfsX28 2721del11 exon 15 deletion of 11 bp from 2721 frameshift
c.2591_2592delTT p.Ile864MetfsX31 2723delTT exon 15 deletion of TT from 2723 frameshift
c.2596T>G p.Cys866Gly C866R exon 15 T to G at 2728 Cys to Arg at 866
c.2596T>A p.Cys866Ser C866S exon 15 T to A at 2728 Cys to Ser at 866
c.2597G>A p.Cys866Tyr C866Y exon 15 G to A at 2729 Cys to Tyr at 866
c.2600_2601insA p.Val868SerfsX28 2732insA exon 15 insertion of A at 2732 frameshift
c.2600T>A p.Leu867X L867X exon 15 T to A at 2732 Leu to Stop at 867
c.2602delG p.Val868X 2734G- >AT exon 15 Deletion of G at 2734 with insertion of AT frameshift
c.2604A>G No Changes 2736G/A exon 15 G or A at 2736 sequence variation
c.2615delC p.Ala872GlufsX34 2747delC exon 15 Deletion of C at nucleotide 2747 Frameshift a premature stop codon appears 34 codons further
c.2619G>A 2751G- >A exon 15 G to A at 2751 mRNA splicing defect?




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The Database was last updated at Apr 25, 2011