BASIC TEXT SEARCH Select your search field from the pull-down menu, enter your search term in the adjacent window and click the "Submit Query" button. The "Mutation Names" search will look for a match in cDNA, protein, or legacy name. You can also search all fields by selecting "All Fields". For advanced search click on the "Advanced Search" button below.

Search:


SEARCH TIPS
  • Search is case insensitive.
  • Search term can consist of a whole word or part of a word e.g.
    • 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.163_164ins8 p.Arg55AsnfsX39 295ins8 exon 2 insertion of ATTGGAAA after 295 frameshift
c.164G>A p.Arg55Lys R55K exon 2 G to A at 296 Arg to Lys at 55
c.165-55C>T 297- 55C/T intron 2 C to T at 297- 55 sequence variation
c.273+10255delC 405+ 10255delC intron 3 405+ 10255delC
c.355A>G p.Ile119Val I119V exon 4 A to G at 487 Iso to Val at 119
c.420_421insA p.Ala141SerfsX18 552insA exon 4 insertion of A after 552 frameshift
c.424delA p.Ile142PhefsX11 556delA exon 4 deletion of A at 556 frameshift
c.429delT p.Phe143LeufsX10 557delT exon 4 deletion of T at 557 frameshift
c.455T>G p.Met152Arg M152R exon 4 T to G at 587 Met to Arg at 152
c.459_476delAATAGCTATGTTTAGTTT p.Ala155_Ile160del 591del18 exon 4 deletion of 18 bp from 591 deletion of 6 a.a. from
c.463G>C p.Ala155Pro A155P exon 4 G to C at 595 Ala to Pro at 155
c.550delC p.Leu184PhefsX5 681delC exon 5 deletion of C at 681 frameshift
c.558C>A p.Asn186Lys N186K exon 5 C to A at 690 Asn to Lys at 186
c.955T>G p.Phe319Val exon 8
c.1055G>A p.Arg352Gln R352Q exon 8 G to A at 1187 Arg to Gln at 352
c.1063C>T p.Pro355Ser P355S exon 8 C to T at 1195 Pro to Ser at 355
c.1355A>C p.Gln452Pro Q452P exon 10 A to C at 1487 Gln to Pro at 452
c.1364C>A p.Ala455Glu A455E exon 10 C to A at 1496 Ala to Glu at 455
c.1550A>G p.Tyr517Cys Y517C exon 11 A to G at 1682 Tyr to Cys at 517
c.1555A>G p.Ser519Gly S519G exon 11 A to G at 1687 Ser to Gly at 519
c.1558G>A p.Val520Ile V520I exon 11 G to A at 1690 Val to Ile at 520
c.1558G>T p.Val520Phe V520F exon 11 G to T at 1690 Val to Phe at 520
c.1648G>A p.Gly550Arg G550R exon 12 G to A at 1780 Gly to Arg at 550
c.1648G>T p.Gly550X G550X exon 12 G to T at 1780 Gly to Stop at 550
c.1650delA p.Gly551ValfsX8 1782delA exon 12 deletion of A at 1782 frameshift
c.1651G>A p.Gly551Ser G551S exon 12 G to A at 1783 Gly to Ser at 551
c.1652G>A p.Gly551Asp G551D exon 12 G to A at 1784 Gly to Asp at 551
c.1652delG p.Gly551ValfsX8 1784delG exon 12 deletion of G at 1784 frameshift
c.1654C>A p.Gln552Lys Q552K exon 12 C to A at 1786 Gln to Lys at 552
c.1654C>T p.Gln552X Q552X exon 12 C to T at 1786 Gln to Stop at 552
c.1656delA p.Gln552HisfsX7 1787delA exon 12 deletion of A at position 1787 or 1788 frameshift, stop codon at 558
c.1657C>G p.Arg553Gly R553G exon 12 C to G at 1789 Arg to Gly at 553
c.1657C>T p.Arg553X R553X exon 12 C to T at 1789 Arg to Stop at 553
c.1658G>A p.Arg553Gln R553Q exon 12 G to A at 1790 Arg to Gln at 553 (associated with [delta]F508;
c.1660_1661insA p.Ala554AspfsX14 exon 12
c.1663A>G p.Arg555Gly R555G exon 12 A to G at 1795 Arg to Gly at 555
c.1666A>G p.Ile556Val I556V exon 12 A to G at 1798 Ile to Val at 556 (mutation?)
c.1670delC p.Ser557PhefsX2 1802delC exon 12 deletion of C at 1802 frameshift
c.1673T>C p.Leu558Ser L558S exon 12 T to C at 1805 Leu to Ser at 558
c.1674delA p.Ala559GlnfsX13 1806delA exon 12 deletion of A at 1806 frameshift
c.1675G>A p.Ala559Thr A559T exon 12 G to A at 1807 Ala to Thr at 559
c.1676C>A p.Ala559Glu A559E exon 12 C to A at 1808 Ala to Glu at 559
c.1676C>T p.Ala559Val A559V exon 12 C to T at 1808 Ala to Val at 559
c.1923_1931del9insA p.Ser641ArgfsX5 2055del9- >A exon 14 deletion of 9 bp CTCAAAACT to A at 2055 frameshift
c.2248_2255del p.Pro750GlnfsX26 2380_2387del exon 14 Deletion of 8 bp from 2380 Frameshift
c.2255T>G p.Ile752Ser I752S exon 14 T to G at 2387 (ATC- >AGC) Ileu to Ser at 752
c.2421A>G p.Ile807Met 2553A/G exon 14 A or G at 2553 sequence variation
c.2424_2425insAT p.Ser809IlefsX13 2556insAT exon 14 insertion of AT after 2556 frameshift
c.2551C>T p.Arg851X R851X exon 15 C to T at 2683 Arg to Stop at 851
c.2552G>T p.Arg851Leu R851L exon 15 G to T at 2684 Arg to Leu at 851
c.2556T>G p.Tyr852X Y852X exon 15 T to G at 2688 Tyr to stop at 852 (Premature termination)
c.2559T>C 2691T/C exon 15 T or C at 2691 sequence variation
c.2562delT p.Val855SerfsX5 2694delT exon 15 deletion of T at 2694 frameshift
c.2563G>A p.Val855Ile V855I exon 15 G to A at 2695 Val to Ile at 855 (sequence variation?)
c.2655_2670delAAACACTCCTCTTCAA p.Asn886ThrfsX15 2787del16 exon 16 - intron 16 Deletion of 16 nucleotides from 2787 Splicing mutation.
c.2855T>C p.Met952Thr M952T exon 17 T to C at 2987 Met to Thr at 952
c.3424_3425insAGTA p.Thr1142LysfsX15 3556insAGTA exon 21 insertion of AGTA after position 3556 frame shift
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.3623delG p.Gly1208AlafsX3 3755delG exon 22 deletion of G between 3751 and 3755 frameshift
c.3763T>C p.Ser1255Pro S1255P exon 23 T to C at 3895 Ser to Pro at 1255
c.3764C>A p.Ser1255X S1255X exon 23 C to A at 3896 and A to G at 3739 in exon 19 Ser to Stop at 1255 and Ile to Val at 1203
c.3764C>T p.Ser1255Leu S1255L exon 23 C to T at 3896 Ser to Leu at 1255
c.3855delC p.Phe1286LeufsX3 exon 23
c.4364C>G p.Ser1455X S1455X exon 27 C to G at 4496 Ser to Stop at 1455
c.4425G>A 4557 G/A exon 27 G to A at 4557 sequence variation (Leu at 1475 no change)
c.*80T>G 4655T- >G 3'UTR T to G at 4655 sequence variation
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.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.54+2909_870-1620del55429insGTACTCAACAGCTCTAG delEx2- 6b exon 2 - intron 7 185+ 2909_1002- 1620del55429ins17 ((insertion of GTACTCAACAGCTCTAG) The deletion of exons 2 to 6b is in frame and would lead to remove 272 residues.
c.(?_3964)_(*1553_?)del Del exon 22- 24 exon 25 - exon 27 Deletion of Exons 22, 23, 24 Predicted Removal of terminal portion of CFTR protein
c.(?_-1270)_(*1553_?)del CFTRdele1- 24 exon 1 - exon 27 deletion of the whole CFTR gene absence of CFTR expression.




Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011