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.580-1G>T 712- 1G- >T intron 5 G to T at 712- 1 mRNA splicing defect
c.580-92T>A 712- 92T/A intron 5 T or A at 712- 92 sequence variation
c.580G>A p.Gly194Arg G194R exon 6 G to A at 712 Gly to Arg at 194
c.1580A>G p.Glu527Gly E527G exon 11 A to G at 1712 Glu to Gly at 527
c.1738delG p.Val580PhefsX2 1870delG exon 13 deletion of G at 1870 frameshift




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The Database was last updated at Apr 25, 2011