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.

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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.274-6T>C 406- 6T- >C intron 3 T to C at 406- 6 mRNA splicing defect?
c.410T>C p.Leu137Pro L137P exon 4 T to C at 542 Leu to Pro at 137 (sequence variation?)
c.508C>G p.Arg170Gly R170G exon 5 C to G at 640 Arg to Gly at 170
c.508C>T p.Arg170Cys R170C exon 5 C to T at 640 Arg to Cys at 170
c.1000C>T p.Arg334Trp R334W exon 8 C to T at 1132 Arg to Trp at 334
c.1210-2_1210-1delAG 1342- 2delAG intron 9 deletion of AG from 1342- 2 mRNA splicing defect
c.1210-2A>C 1342- 2A- >C intron 9 A to C at 1342- 2 mRNA splicing defect
c.1210-1delG 1342- 1delG intron 9 Deletion of G at 1342- 1 Frameshift
c.1210-1G>C 1342- 1G- >C intron 9 G to C at 1342- 1 mRNA splicing defect
c.1210-13G>T 1342- 13G/T intron 9 G or T at 1342- 13 sequence variation
c.1210-12T[5_9] poly- T tract variations intron 9 variable number (5T, 7T, 9T) of thymidines at the poly- T tract starting at position 1342- 6 sequence variation (3 variants of which IVS8-5T is affecting splicing of exon 9)
c.1210-11T>G 1342- 11TTT- >G intron 9 TTT to G at 1342- 11 mRNA splicing defect?
c.1364C>A p.Ala455Glu A455E exon 10 C to A at 1496 Ala to Glu at 455
c.1397C>G p.Ser466X S466X(TAG) exon 11 C to G at 1529 Ser to Stop at 466
c.1397C>T p.Ser466Leu S466L exon 11 C to T at 1529 Ser to Leu at 466 (CBAVD)
c.1397C>A p.Ser466X S466X(TAA) exon 11 C to A at 1529 Ser to Stop at 466
c.1438G>A p.Gly480Ser G480S exon 11 G to A at 1570 Gly to Ser at 480
c.1438G>T p.Gly480Cys G480C exon 11 G to T at 1570 Gly to Cys at 480
c.1439G>A p.Gly480Asp G480D exon 11 G to A at 1571 Gly to Asp at 480
c.1439delG p.Gly480ValfsX47 1571delG exon 11 deletion of G at 1571 frameshift
c.2125C>T p.Arg709X R709X exon 14 C to T at 2257 Arg to Stop at 709
c.2126G>A p.Arg709Gln R709Q exon 14 G to A at 2258 Arg to Gln at 709
c.2508delT p.Asp836GlufsX8 2640delT exon 15 deletion of T at 2640 frameshift
c.2731A>C p.Ser911Arg S911R exon 17 A to C at 2863 or T to A or T to G at 2865 Ser to Arg at 911
c.2731A>C p.Ser911Arg S911R exon 17 A to C at 2863 or T to A or T to G at 2865 Ser to Arg at 911
c.3469-2A>G 3601- 2A- >G intron 21 A to G at 3601- 2 mRNA splicing defect
c.3469-65C>A 3601- 65C/A intron 21 C or A at 3601- 65 sequence variation
c.3469-17T>C 3601- 17T- >C intron 21 T to C at 3601- 17 mRNA splicing defect?
c.3469-20T>C 3601- 20T- >C intron 21 T to C at 3601- 20 mRNA splicing mutant?
c.3469-111G>C 3601- 111G/C intron 21 G or C at 3601- 111 sequence variation
c.3469-331_3469-295del37;3469-189_3717+3822del4260pb intron 21 - exon 22
c.3469-331_3469-295del37;3469-189_3717+3822del4260pb intron 21 - exon 22
c.3908dupA p.Asn1303LysfsX6 exon 24
c.4264C>T p.Arg1422Trp R1422W exon 27 C to T at 4396 Arg to Trp at 1422
c.4333G>A p.Asp1445Asn D1445N exon 27 G to A at 4465 Asp to Asn at 1445
c.4333G>A p.Asp1445Asn D1445N exon 27 G to A at 4465 Asp to Asn at 1445
c.4364C>G p.Ser1455X S1455X exon 27 C to G at 4496 Ser to Stop at 1455
c.4439T>C p.Leu1480Pro L1480P exon 27 T to C at 4571 Leu to Pro a 1480




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The Database was last updated at Apr 25, 2011