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 MSD5 domain:

cDNA Name Protein Name Legacy Name Region Description Consequence
c.1057C>T p.Gln353X Q353X exon 8 C to T at 1189 Gln to Stop at 353
c.1059A>C p.Gln353His Q353H exon 8 A to C at 1191 Gln to His at 353
c.1063C>T p.Pro355Ser P355S exon 8 C to T at 1195 Pro to Ser at 355
c.1069delG p.Ala357LeufsX12 1199delG exon 8 deletion of G at 1199 frameshift
c.1067G>C p.Trp356Ser W356S exon 8 G to C at 1199 Tryptophan to Serine at codon 356
c.1068G>A p.Trp356X W356X exon 8 G to A at 1200 Trp to Stop at 356
c.[1075C>A;1079C>A] p.[Gln359Lys;Thr360Lys] Q359K/T360K exon 8 C to A at 1207 and C to A at 1211 Glu to Lys at 359 and Thr to Lys at 360
c.1076A>G p.Gln359Arg Q359R exon 8 A to G at 1208 Gln to Arg at 359
c.1079C>G p.Thr360Arg T360R exon 8 C to G at 1211 sequence variation? (Thr to Arg at 360)
c.1081delT p.Trp361GlyfsX8 1213delT exon 8 deletion of T at 1213 frameshift
c.1081T>A p.Trp361Arg W361R(T- >A) exon 8 T to A at 1213 Trp to Arg at 361
c.1081T>C p.Trp361Arg W361R(T- >C) exon 8 T to C at 1213 Trp to Arg at 361
c.1083delG p.Trp361CysfsX8 1215delG exon 8 deletion of G at 1215 frameshift
c.1086T>G p.Tyr362X exon 8
c.1086T>A p.Tyr362X exon 8
c.1093_1094delCT p.Leu365TrpfsX16 1221delCT exon 8 deletion of CT from 1221 frameshift
c.1089_1091delinsAAT p.Asp363_Ser364delinsGluIle exon 8
c.1090T>C p.Ser364Pro S364P exon 8 T to C at 1222 Ser to Pro at 364
c.1094T>C p.Leu365Pro L365P exon 8 T to C at 1226 Leu to Pro at 365
c.1101A>T 1233A/T exon 8 A or T at 1233 Sequence variation
c.1111_1112ins6 p.Lys370_Ile371insThrLys 1243ins6 exon 8 insertion of ACAAAA after 1243 insertion of Asp and Lys after Lys370
c.1111dupA p.Ile371AsnfsX11
c.1114C>T p.Gln372X
c.1117G>A p.Asp373Asn
c.1119T>G p.Asp373Glu D373E exon 9 T to G at 1251 Asp to Glu a 373

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The Database was last updated at Apr 25, 2011