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 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.417C>T 549C/T exon 4 C to T at 549 sequence variation (His at 139 no change)
c.1645A>C p.Ser549Arg S549R(A- >C) exon 12 A to C at 1777 Ser to Arg at 549
c.1645_1648delAGTG p.Ser549GlufsX9 exon 12
c.1646G>T p.Ser549Ile S549I exon 12 G to T at 1778 Ser to Ile at 549
c.1646G>A p.Ser549Asn S549N exon 12 G to A at 1778 Ser to Asn at 549
c.1647T>G p.Ser549Arg S549R(T- >G) exon 12 T to G at 1779 Ser to Arg at 549

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The Database was last updated at Apr 25, 2011