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 MSD10 domain:

cDNA Name Protein Name Legacy Name Region Description Consequence
c.3274T>C p.Tyr1092His Y1092H exon 20 T to C at 3406 Tyr to His at 1092
c.3275A>G p.Tyr1092Cys Y1092C exon 20 A to G at 3407 Tyr to Cys at 1092
c.3276C>A p.Tyr1092X Y1092X(C- >A) exon 20 C to A at 3408 Tyr to Stop at 1092
c.3276C>G p.Tyr1092X Y1092X(C- >G) exon 20 C to G at 3408 Tyr to Stop at 1092
c.3278T>C p.Leu1093Pro L1093P exon 20 T to C at 3410 Leu to Pro at 1093
c.3285A>T 3417A/T exon 20 A or T at 3417 sequence variation
c.3287delT p.Leu1096ArgfsX6 3419delT exon 20 deletion of T at 3419 frameshift
c.3287T>G p.Leu1096Arg L1096R exon 20 T to G at 3419 Leu to Arg at 1096
c.3291delC p.Trp1098GlyfsX4 3423delC exon 20 deletion of C at 3423 frameshift
c.3292T>C p.Trp1098Arg W1098R exon 20 T to C at 3424 Trp to Arg at 1098
c.3294delG p.Trp1098CysfsX4 3425delG exon 20 deletion of G at 3425 or 3426 frameshift
c.3293G>T p.Trp1098Leu W1098L exon 20 G to T at 3425 Trp to Leu at 1098
c.3293G>A p.Trp1098X W1098X(TAG) exon 20 G to A at 3425 Trp to Stop at 1098
c.3294G>A p.Trp1098X W1098X(TGA) exon 20 G to A at 3426 Trp to Stop at 1098
c.3294G>C p.Trp1098Cys
c.3297C>A p.Phe1099Leu
c.3298C>A p.Gln1100Lys
c.3299A>C p.Gln1100Pro Q1100P exon 20 A to C at 3431 Gln to Pro at 1100
c.3302T>A p.Met1101Lys M1101K exon 20 T to A at 3434 Met to Lys at 1101
c.3302T>G p.Met1101Arg M1101R exon 20 T to G at 3434 Met to Arg at 1101
c.3304A>T p.Arg1102X R1102X exon 20 A to T at 3436 Arg to Stop at 1102
c.3306A>G 3438A/G exon 20 A or G at 3438 Sequence variation
c.3308T>A p.Ile1103Lys
c.3310G>T p.Glu1104X E1104X exon 20 G to T at 3442 Glu to Stop at 1104
c.3310G>A p.Glu1104Lys
c.3314T>G p.Met1105Arg M1105R exon 20 T to G at 3446 Met to Arg at 1105
c.3315delG p.Met1105IlefsX16 3447delG exon 20 Deleletion of G at 3447 Frameshift
c.3321dupT p.Val1108CysfsX48
c.3322G>C p.Val1108Leu V1108L exon 20 G to C at 3454 Val to Leu at 1108

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The Database was last updated at Apr 25, 2011