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 MSD4 domain:

cDNA Name Protein Name Legacy Name Region Description Consequence
c.803delA p.Asn268IlefsX17 935delA exon 7 deletion of A at 935 frameshift
c.805_806delAT p.Ile269ProfsX4 936delTA exon 7 deletion of TA from 936 frameshift
c.812C>G p.Ser271Cys
c.825C>G p.Tyr275X exon 7
c.827_828delinsAA p.Cys276X
c.828C>A p.Cys276X C276X exon 7 C to A at 960 Cys to Stop at 276
c.829T>A p.Trp277Arg W277R exon 7 T to A at 961 Trp to Arg at 277
c.830G>A p.Trp277X
c.836_838delAAG p.Glu279del E278del exon 7 deletion of AAG from 965 deletion of Glu at 278
c.-236a>T promoter
c.837A>T p.Glu279Asp E279D exon 7 A to T at 969 Glu to Asp at 279
c.837A>T p.Glu279Asp E279D exon 7 A to T at 969 Glu to Asp at 279
c.842T>C p.Met281Thr M281T exon 7 T to C at 974 Met to Thr at 281
c.845_846insA p.Met284AsnfsX3 977insA exon 7 insertion of A after 977 frameshift
c.846A>T p.Glu282Asp E282D exon 7 978A>T
c.853A>T p.Ile285Phe I285F exon 7 A to T at 985 Ile to Phe at 285
c.857_858insA p.Asn287LysfsX21 989- 992insA exon 7 Insertion of A at 989- 992 Frameshift
c.859_863delAACTT p.Asn287LysfsX19 991del5 exon 7 deletion AACTT from 991 or CTTAA from 993 frameshift
c.859A>T p.Asn287Tyr N287Y exon 7 A to T at 991 Asn to Tyr at 287
c.861C>G p.Asn287Lys exon 7

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The Database was last updated at Apr 25, 2011