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 MSD11 domain:

cDNA Name Protein Name Legacy Name Region Description Consequence
c.3535_3538delACCA p.Thr1179AsnfsX12 3667del4 exon 22 deletion of 4 bp from 3667 frameshift
c.3535_3536insTCAA p.Thr1179IlefsX17 3667ins4 exon 22 insertion of TCAA after 3667 frameshift
c.3540delA p.Lys1180AsnfsX12 3670delA exon 22 deletion of A at 3670 frameshift
c.3546C>G p.Tyr1182X Y1182X exon 22 C to G at 3678 Tyr to Stop at 1182
c.3556C>T p.Gln1186X Q1186X exon 22 C to T at 3688 Gln to Stop at 1186
c.3558A>G Q1186Q (3690A/G) exon 22 A or G at 3690 sequence variation
c.3564G>A 3696G/A exon 21 G to A at 3696 No change to Ser at 1188
c.3569T>A p.Val1190Asp V1190D exon 22 T to A at 3701 Val to Asp at 1190
c.3584A>C p.Asn1195Thr N1195T exon 22 A to C at 3716 Asn to Thr at 1195
c.3587C>G p.Ser1196X S1196X exon 22 C to G at 3719 Ser to Stop at 1196
c.3592delG p.Val1198X 3724delG exon 22 deletion of G at 3724 frameshift
c.3594G>T 3726G/T exon 22 G or T at 3726 sequence variation

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The Database was last updated at Apr 25, 2011