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 MSD9 domain:

cDNA Name Protein Name Legacy Name Region Description Consequence
c.3199G>C p.Ala1067Pro A1067P exon 20 G to C at 3331 Ala en Pro at 1067
c.3199G>A p.Ala1067Thr A1067T exon 20 G to A at 3331 Ala to Thr at 1067
c.3199_3200delinsA p.Ala1067ThrfsX16 exon 20
c.3200C>A p.Ala1067Asp A1067D exon 20 C to A at 3332 Ala to Asp at 1067
c.3200C>G p.Ala1067Gly A1067G exon 20 C to G at 3332 Ala to Gly at 1067
c.3200C>T p.Ala1067Val A1067V exon 20 C to T at 3332 Ala to Val at 1067
c.3201C>T 3333C/T exon 20 C or T at 3333 sequence variation
c.3204C>T 3336C/T exon 20 C or T at 3336 sequence variation
c.3205G>A p.Gly1069Arg G1069R exon 20 G to A at 3337 Gly to Arg at 1069
c.3208C>T p.Arg1070Trp R1070W exon 20 C to T at 3340 Arg to Trp at 1070
c.3209G>C p.Arg1070Pro R1070P exon 20 G to C at 3341 Arg to Pro at 1070
c.3209G>A p.Arg1070Gln R1070Q exon 20 G to A at 3341 Arg to Gln at 1070
c.3211C>T p.Gln1071X Q1071X exon 20 C to T at 3343 Gln to Stop at 1071
c.3212A>C p.Gln1071Pro Q1071P exon 20 A to C at 3344 Gln to Pro at 1071
c.3213G>T p.Gln1071His Q1071H exon 20 G to T at 3345 Gln to His at 1071
c.3215C>T p.Pro1072Leu P1072L exon 20 C to T at 3347 Pro to Leu at 1072
c.3218A>G p.Tyr1073Cys Y1073C exon 20 A to G at 3350 Tyr to Cys at 1073
c.3220T>C p.Phe1074Leu
c.3222T>A p.Phe1074Leu F1074L exon 20 T to A at 3354 Phe to Leu at 1074
c.3229_3230delCT p.Leu1077ValfsX78 3359delCT exon 20 deletion of CT from 3359 frameshift
c.3230T>C p.Leu1077Pro L1077P exon 20 T to C at 3362 Leu to Pro at 1077
c.3232T>A p.Phe1078Ile
c.3233T>C p.Phe1078Ser exon 20
c.3236A>C p.His1079Pro H1079P exon 20 A to C at 3368 His to Pro at 1079
c.3238A>C p.Lys1080Gln K1080Q exon 20 3370A>C
c.3239A>G p.Lys1080Arg K1080R exon 20 A to G at 3371 Lys to Arg at 1080
c.3239A>T p.Lys1080Ile
c.3241G>C p.Ala1081Pro A1081P exon 20 G to C at 3373 Ala to Pro at 1081
c.3252A>G 3384A/G exon 20 A or G at 3384 sequence variation
c.3254A>G p.His1085Arg H1085R exon 20 A to G at 3386 His to Arg at 1085
c.3256A>G p.Thr1086Ala T1086A exon 20 A to G at 3388 Thr to Ala at 1086
c.3257C>T p.Thr1086Ile T1086I exon 20 C to T at 3389 Thr to Ile at 1086
c.3259G>C p.Ala1087Pro A1087P exon 20 G to C at 3391 Ala to Pro at AS 1087

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The Database was last updated at Apr 25, 2011