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 MSD6 domain:

cDNA Name Protein Name Legacy Name Region Description Consequence
c.1125A>C p.Leu375Phe L375F exon 9 A to C at 1257 Leu to Phe at 375 (CUAVD)
c.1127_1128insA p.Gln378AlafsX4 1259insA exon 9 insertion of A after 1259 frameshift
c.1132C>T p.Gln378X
c.1133A>G p.Gln378Arg Q378R exon 9 A to G at 1265 Gln to Arg at 378
c.1135G>A p.Glu379Lys E379K exon 9 G to A at 1267 Glu to Lys at 379
c.1135G>T p.Glu379X E379X exon 9 G to T at 1267 Glu to Stop at 379
c.1141_1142delAA p.Lys381AspfsX5
c.1148T>C p.Leu383Ser L383S exon 9 T to C at 1280 Leu to Ser at 383
c.1149G>A L383L (1281G/A) exon 9 G or A at 1281 sequence variation
c.1149G>T p.Leu383Phe
c.1152delA p.Glu384AspfsX4 1283delA exon 9 deletion of A at 1283 frameshift
c.1153_1154insAT p.Asn386IlefsX3 1288insTA exon 9 Insertion of TA at 1285 Or Insertion of AT at 1284 Frameshift
c.1157_1158insTA p.Leu387ThrfsX2 1289insTA exon 9 Insertion of TA at 1289 Frameshift
c.1159_1160delTT p.Leu387AsnfsX23 1291delTT exon 9 delete TT from 1291 Frame shift
c.1162_1168delACGACTA p.Thr388GlnfsX3 1294del7 exon 9 deletion of 7 bp from 1294 frameshift
c.1162_1163delACinsTA p.Thr388X T388X exon 9 AC to TA at 1294 Thr to Stop at 388
c.1163C>T p.Thr388Met T388M exon 9 C to T at 1295 Thr to Met at 388 (sequence variation?)
c.1164G>T 1296G/T exon 9 G to T at 1296 sequence variation (Thr at 388 no change)
c.1175T>C p.Val392Ala V392A exon 9 T to C at 1307 Val to Ala at 392 CAVD
c.1175T>G p.Val392Gly V392G exon 9 T to G at 1307 Val to Gly at 392
c.1177delG p.Val393X 1309delG exon 9 deletion of G at 1309 frameshift
c.1181T>G p.Met394Arg M394R exon 9 T to G at 1313 Met to Arg at 394

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The Database was last updated at Apr 25, 2011