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    • Searching for "551" in the Protein Name field will retrieve all mutations that alter the protein at position 551.
    • Searching for "del" in Mutation Names will retrieve all deletion mutations (but it may take awhile).


cDNA Name Protein Name Legacy Name Region Description Consequence
c.(?_744)_(2988_?)dup exon 7 - exon 18 Duplication of exons 6B to 16
c.-593A>G - 461A- >G promoter A to G at - 461 promoter mutation
c.-410g>C promoter
c.1A>C p.Met1Leu M1L exon 1 A to C at 133 Met to Leu at 1
c.53+4A>T 185+ 4A- >T intron 1 A to T at 185+ 4 mRNA splicing defect? (CBAVD)
c.54-4235_164+377dup4723 intron 1
c.54-1G>A intron 1
c.76A>G p.Lys26Glu exon 3
c.79G>C p.Gly27Arg G27R(211G to C) exon 2 G to C at 211 Gly to Arg at 27
c.79G>A p.Gly27Arg G27R exon 2 G to A at 211 Gly to Arg at 27
c.224G>T p.Arg75Leu R75L exon 3 G to T at 356 Arg to Leu at 75
c.325T>C p.Tyr109His exon 4
c.338A>T p.Asn113Ile N113I exon 4 A to T at 470 Asn to Ile
c.387delT p.Leu130SerfsX? 519delT exon 4 T deleted frameshift
c.442A>T p.Ile148Phe exon 4
c.446G>T p.Gly149Val G149V exon 4 G to T at 578 Gly to Val at 149
c.451C>A p.Gln151Lys Q151K exon 4 C to A at 583 (CAG- >AAG) Gln to Lys at 151
c.476T>C p.Leu159Ser L159S exon 4 T to C at 608 Leu to Ser at 159
c.490-2A>G 622- 2A- >G intron 4 A to G at 622- 2 mRNA splicing defect
c.500T>G p.Leu167Arg exon 5
c.533G>A p.Gly178Glu G178E exon 5 G to A at 665 Gly to Glu at 178
c.606G>A p.Trp202X W202X exon 6 G to A at 738 Try to Stop at 202
c.744-2a>G intron 6
c.829T>A p.Trp277Arg W277R exon 7 T to A at 961 Trp to Arg at 277
c.869+5g>A intron 7
c.890G>A p.Arg297Gln R297Q exon 8 G to A at 1022 Arg to Gln at 297
c.938C>A p.Ser313X S313X exon 8 C to A at 1070 Ser to Stop
c.1086T>A p.Tyr362X exon 8
c.1116+1G>A 1248+ 1G- >A intron 8 G to A at 1248+ 1 mRNA splicing defect
c.1117-1g>A intron 8
c.1227delT p.Phe409LeufsX33 exon 10
c.1324A>T p.Lys442X exon 10
c.1331T>C p.Ile444Thr I444T exon 10 T to C at 1463 lle to Thr at 444
c.1720C>T p.Pro574Ser P574S exon 13 C to T at 1852 Pro to Ser at 574
c.1763A>T p.Glu588Val E588V exon 13 A to T at 1895 Glu to Val at 588
c.1784T>C p.Met595Thr M595T exon 14 T to C at 1916 Met to Thr at 595
c.2044delA p.Thr682GlnfsX40 exon 14
c.2087A>G p.Lys696Arg exon 14
c.2233G>T p.Gly745X G745X(Gly745X) exon 14 G to T at 2365 Non-sense mutation
c.2277delC p.Thr760ArgfsX11 2409delC exon 14 Deletion of C at 2409 Frameshift
c.2295G>T p.Arg765Ser exon 14
c.2380delG p.Val794CysfsX9 2512delG exon 14 Deletion of G at 2512 Frameshift
c.2620-15C>G 2752- 15C/G intron 15 C or G at 2752- 15 sequence variation
c.2803_2813delCTACCACTGGT p.Leu935AlafsX36 exon 17
c.2918T>A p.Leu973His L973H exon 18 T to A at 3050 Leu to His at 973
c.2988+33g>T 3120+ 33G>T intron 18
c.2989-3C>G 3121- 3C- >G intron 18 C to G at 3121- 3 mRNA splicing
c.3009_3017delAGCTATAGC p.Ala1004_Ala1006del 3141del9 exon 19 del AGCTATAGC from 3141 Frameshift
c.3139+42A>T 3271+ 42A/T intron 19 A or T at 3271+ 42 sequence variation
c.3151A>G p.Ile1051Val I1051V exon 20 A to G at 3283 Ile to Val at 1051
c.3196C>T p.Arg1066Cys R1066C exon 20 C to T at 3328 Arg to Cys at 1066
c.3199G>C p.Ala1067Pro A1067P exon 20 G to C at 3331 Ala en Pro at 1067
c.3304A>T p.Arg1102X R1102X exon 20 A to T at 3436 Arg to Stop at 1102
c.3443A>G p.Asn1148Ser N1148S exon 21 A to G at 3575 Asn to Ser at 1148
c.3469-331_3469-295del37;3469-189_3717+3822del4260pb intron 21 - exon 22
c.3717G>C p.Arg1239Ser R1239S exon 22 G to C at 3849 Arginine to Serine at 1239
c.3835_3836delTT p.Leu1279AlafsX22 exon 23
c.3837G>A p.Leu1279Leu exon 23
c.3847A>G p.Arg1283Gly exon 23
c.3964-78_4242+577del CFTRdele22, 23 exon 25 - exon 26 This deletion extends from nucleotide - 78 of intron 21 (the end of intron 21 being defined as - 1) to nucleotide + 577 of intron 23 (the beginning of intron 23 being defined as + 1) with a loss of 1532 nucelotides The loss of exons 22 and 23 was in-frame and was predicted to result in a CFTR protein lacking amino acids 1322 to 1414, this constitutes the carboxy terminal end of the newly defined nucleotide-binding domain (NBD) 2 of the protein
c.3963+2t>A intron 24
c.4035_4038dupCCTA p.Ser1347ProfsX13 exon 25
c.4196_4197delTC p.Cys1400X 4326delTC exon 26 Deletion of TC from 4326 to 4327 FrameShift
c.4242+1G>A 4374+ 1G- >A intron 26 G to A at 4374+ 1 mRNA splicing defect
c.4243-7delT 4375- 7delT intron 26
c.4252G>T p.Glu1418X E1418X exon 27 G to T at 4384 (GAG- >TAG) Glu to Stop at 1418
c.2989-977_3367+248del 3121- 977_3499+ 248del2515 exon 19 - exon 20 3121- 977_3499+ 248del2515bp Large deletion removing exons 17a and 17b. Frameshift
c.(?_1211)_(2988_?)dup CFTRdup10_18 exon 11 - exon 21 Duplication of exons 10 to 18 The position and orientation of the duplicated region have not been determined. However, given the classical CF phenotype, it is hypothesized that it is located inside the CFTR gene.
c.(?_2620)_(3367_?)del CFTRdele14b- 17b exon 16 - exon 20 9890 bp deletion Removes 5 coding exons
c.(?_274)_(743_?)delins6 CFTRdele4- 6aIns6bp exon 4 - exon 6 Deletion of 18, 654 bp encompassing exons 4, 5, and 6a, together with an insertion of 6 bp This large deletion disrupted the reading frame of the protein
c.2620-674_3367+198del 2752- 674_3499+ 198del9855 exon 16 - exon 20 2752- 674_3499+ 198del9855bp Large deletion removing exons 14b to 17b. Frameshift
c.(?_274)_(489_?)delins41 CFTRdele4Ins41bp exon 4 Gross deletion of 8, 165 bp spanning exon 4, together with an insertion of 41 bp This deletion was in-frame and was predicted to lead to the synthesis of a protein lacking amino acids 92-163, a stretch that includes a part of TM1 and the the entire TM2
c.4_53+69delins299 CFTRdele1 or 136del119ins299 exon 1 - intron 1 136_185+ 69del119bpins299bp Deletion of exon 1 from nucleotide 136 (codons 2-18) to intron 1 nucleotide +69 and insertion of an inverted and complementary sequence of intron 1 (nucleotide 185+4191 to +4488) and addition of a G at the junction. A small peptide of 17 residues if translation starts at the same ATG or another protein (possibly CFTR-like?) if another ATG is choosen.
c.4_53+69delins299 CFTRdele1Ins299bp exon 1 This indel involved the deletion of 119 bp extending from coding position 4 (A of the ATG- translation initiation codon being defined as 1) to IVS1+ 69 that removed nearly the entire coding sequence of exon 1, and the insertion of 299 bp at the deletion junction
c.4_53+69delins299 CFTRdele1 exon 1 Deletion of exon 1 from nucleotide 136 (codons 2- 18) to intron 1 nucleotide + 69 and insertion of an inverted and complementary sequence of intron 1 (nucleotide 185+ 4191 to + 4488) and addition of a G at the junction. A small peptide of 17 residues if translation starts at the same ATG or another protein (possibly CFTR-like?) if another ATG is choosen.
c.(?_-132)_(273_?)dup CFTRdup1- 3 exon 1 - exon 3 Duplication of exons 1 to 3 Large rearrangement. The break points and orientation are being assessed
c.33281_3367+268del355insTGTTAA 3413del355_insTGTTAA exon 20 Partial deletion of exon 17b. It removes 355 bp, i.e. from nt 3413 (in codon 1094) to 3499+ 268 in intron 17b; the sequence "TGTTAA" is inserted at the breakpoints. A stop codon appears very early in the new sequence but the consequences at the RNA level remain to be studied.
c.-12_10del23 120del23 promoter - exon 1 Deletion of 23 bp from nucleotide + 120 of exon 1 promoter, to nucleotide 142 (the first nucleotide of codon 4) This mutation abolishes the initiation codon at position 133. The next possible initiation codon is located at intron 1 position 185+63.




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The Database was last updated at Apr 25, 2011