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.332C>T p.Pro111Leu P111L exon 4 C to T at 464 Pro to Leu at 111
c.454A>G p.Met152Val M152V exon 4 A to G at 586 Met to Val at 152 (mutation?)
c.454A>T p.Met152Leu M152L exon 4 A to T at 586 Met to Leu at 152
c.455T>G p.Met152Arg M152R exon 4 T to G at 587 Met to Arg at 152
c.489+31C>G 621+ 31C/G intron 4 C or G at 621+ 31 sequence variation
c.489+3A>G 621+ 3A- >G intron 4 A to G at 621+ 3 mRNA splicing defect
c.579+34A>G 711+ 34A- >G intron 5 A to G at 711+ 34 mRNA splicing defect?
c.695T>A p.Val232Asp V232D exon 6 T to A at 827 Val to Asp at 232 (CBAVD)
c.1865G>A p.Gly622Asp G622D exon 14 G to A at 1997 Gly to Asp at 622 (oligospermia)
c.3469-20T>C 3601- 20T- >C intron 21 T to C at 3601- 20 mRNA splicing mutant?
c.3744delA p.Lys1250ArgfsX9 3876delA exon 23 deletion of A at 3876 frameshift

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The Database was last updated at Apr 25, 2011