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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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.(?_54)_(273_?)del Del exon 2- 3 intron 2 - exon 3 Deletion of exons 2, 3 Predicted truncation of the CFTR Protein
c.(?_274)_(743_?)del Del exon 4- 6a exon 4 - exon 6 Deletion of exons 4, 5, 6a Predicted truncation of the CFTR protein in TM1.
c.(?_2989)_(3367_?)del Del exon 17a- 17b exon 19 - exon 20 Deletion of exons 17a- 17b Truncation of CFTR protein in TM2.
c.(?_2989)_(3468_?)del Del exon 17a- 17b- 18 exon 19 - exon 21 Deletion of exons 17a- 18 in-frame deletion, joining of exons 16 to 19, deletion of terminal domain of TM2.
c.(?_3964)_(4242_?)del Del exon 22- 23 exon 25 - exon 26 Deletion of exons 22- 23 In-frame deletion that is predicted to remove the terminal part of NBD2
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




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The Database was last updated at Apr 25, 2011