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 MSD8 domain:

cDNA Name Protein Name Legacy Name Region Description Consequence
c.2963C>G p.Pro988Arg exon 18
c.2968_2969insA p.Thr990AsnfsX4 3100insA exon 18 insertion of A after 3100 frameshift
c.2968A>T p.Thr990Ser exon 18
c.2971A>G p.Ile991Val I991V exon 18 A to G at 3103 Ile to Val at 991
c.2977G>T p.Asp993Tyr D993Y exon 18 G to T at 3109 Asp to Tyr at 993
c.2978A>G p.Asp993Gly D993G exon 18 A to G at 3110 Asp to Gly at 993
c.2981T>G p.Phe994Cys F994C exon 18 T to G at 3113 Phe to Cys at 994
c.2988G>A 3120G- >A exon 18 G to A at 3120 mRNA splicing defect
c.2991G>C p.Leu997Phe L997F exon 19 G or C at 3123 Leu or Phe at 997 (sequence variation)
c.2994_2997delATTA p.Ile1000X 3126del4 exon 19 deletion of ATTA from 3126 frameshift
c.2997_3000delAATT p.Ile1000X 3129del4 exon 19 deletion of 4 bp from 3129 frameshift
c.2998_3012del p.Ile1000_Ile1005del 3130del15 exon 19 delete 15 nucleotide at 3130 In fram in/del
c.2998delA p.Ile1000LeufsX2 3130delA exon 19 Deletion of A at 3130 frameshift
c.2998_3012del p.Val1001_Ile1005del 3131del15 exon 19 deletion of 15 bp from 3130, 3131, or 3132 deletion of Val at 1001 to Ile at 1005
c.3002_3003delTG p.Val1001AspfsX45 3132delTG exon 19 deletion of TG from 3132 frameshift
c.3000_3014delTGTGATTGGAGCTAT p.Val1001_Ile1005del
c.3001G>A p.Val1001Met
c.3007G>T p.Gly1003X G1003X exon 19 G to T at 3139 Gly to Stop at 1003
c.3008G>A p.Gly1003Glu G1003E exon 19 G to A at 3140 Gly to Glu at 1003
c.3009_3017delAGCTATAGC p.Ala1004_Ala1006del 3141del9 exon 19 del AGCTATAGC from 3141 Frameshift
c.3014T>G p.Ile1005Arg I1005R exon 19 T to G at 3146 Ile to Arg at 1005
c.3017C>A p.Ala1006Glu A1006E exon 19 C to A at 3149 Ala to Glu at 1006
c.3021delT p.Val1008SerfsX15 3152delT exon 19 delete T at 3152 frameshift
c.3021delT p.Val1008SerfsX15 3153delT exon 19 deletion of T at 3153 frameshift
c.3022delG p.Val1008SerfsX15 3154delG exon 19 deletion of G at 3154 frameshift
c.3023T>A p.Val1008Asp V1008D exon 19 T to A at 3155 Val to Asp at 1008

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The Database was last updated at Apr 25, 2011