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 MSD12 domain:

cDNA Name Protein Name Legacy Name Region Description Consequence
c.3616T>A p.Ser1206Thr
c.3617C>G p.Ser1206X S1206X exon 22 C to G at 3749 Ser to Stop at 1206
c.3617C>A p.Ser1206X S1206X(C>A) exon 22 C to A at 3749 Ser to Stop at 1206
c.3618_3619delAG p.Gly1208ProfsX56 3750delAG exon 22 deletion of AG from 3750 frameshift
c.3618delA p.Gly1208AlafsX3
c.3623delG p.Gly1208AlafsX3 3755delG exon 22 deletion of G between 3751 and 3755 frameshift
c.3627A>C p.Gln1209His
c.3629T>A p.Met1210Lys M1210K exon 22 T to A at 3761 Met to Lys at 1210
c.3630G>A p.Met1210Ile M1210I exon 22 G to A at 3762 Met to Ile at 1210
c.3634G>A p.Val1212Ile V1212I exon 22 G to A at 3766 Val to Ile at 1212
c.3634G>T p.Val1212Phe exon 22
c.3635delT p.Val1212AlafsX16
c.3639delA p.Asp1214IlefsX14
c.3648A>C 3780 A/C exon 22 A to C at 3780 sequence variation
c.3657_3658insA p.Thr1220AsnfsX45 3789insA exon 22 insertion of A at 3789 frameshift resulting in a premature termination at 3921
c.3659C>T p.Thr1220Ile 3791C/T exon 22 C or T at 3791 sequence variation
c.3659delC p.Thr1220LysfsX8 3791delC exon 22 deletion of C at 3791 frameshift
c.3664_3665insTCAA p.Gly1222ValfsX44 exon 22
c.3667G>A p.Gly1223Arg
c.3674C>T p.Ala1225Val exon 22

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The Database was last updated at Apr 25, 2011