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 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.489+3A>G 621+ 3A- >G intron 4 A to G at 621+ 3 mRNA splicing defect
c.877C>A p.Leu293Met L293M exon 8 C to A at 1009 Leu to Met at 293
c.1798A>G p.Arg600Gly R600G exon 14 A to G at 1930 Arg to Gly at 600
c.2083_2084insG p.Glu695GlyfsX35 2215insG exon 14 insertion of G at 2215 frameshift
c.2087A>G p.Lys696Arg exon 14
c.2089_2090insA p.Arg697LysfsX33 2221insA exon 14 insertion of A at 2221 Frameshift a premature stop codon appears 33 codons further
c.2089_2090insA p.Arg697LysfsX33 2221insA exon 14 insertion of A at 2221 Frameshift a premature stop codon appears 33 codons further
c.2900T>C p.Leu967Ser L967S exon 17 T to C at 3032 Leu to Ser at 967 (oligospermia?)
c.3208C>T p.Arg1070Trp R1070W exon 20 C to T at 3340 Arg to Trp at 1070
c.3293G>A p.Trp1098X W1098X(TAG) exon 20 G to A at 3425 Trp to Stop at 1098
c.3294G>A p.Trp1098X W1098X(TGA) exon 20 G to A at 3426 Trp to Stop at 1098
c.3469-17T>C 3601- 17T- >C intron 21 T to C at 3601- 17 mRNA splicing defect?
c.3876delA p.Val1293TyrfsX35 4006delA exon 24 deletion of A at 4006 frameshift
c.3877G>A p.Val1293Ile V1293I exon 24 G to A at 4009 Val to Ile at 1293
c.4389G>T p.Gln1463His Q1463H exon 27 G to T at 4521 Gln to His a 1463




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The Database was last updated at Apr 25, 2011