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.1A>G p.Met1Val M1V exon 1 A to G at 133 no translation initiation
c.1A>G p.Met1Val M1V exon 1 A to G at 133 no translation initiation
c.-226G>T - 94G- >T promoter G to T at - 94 promoter mutation
c.53+1G>T 185+ 1G- >T intron 1 G to T at 185+ 1 mRNA splicing defect
c.2981T>G p.Phe994Cys F994C exon 18 T to G at 3113 Phe to Cys at 994
c.3038C>T p.Pro1013Leu P1013L exon 19 C to T at 3170 Pro to Leu at 1013
c.3154T>G p.Phe1052Val F1052V exon 20 T to G at 3286 Phe to Val at 1052
c.3154T>G p.Phe1052Val F1052V exon 20 T to G at 3286 Phe to Val at 1052
c.3730G>A p.Gly1244Arg G1244R exon 23 G to A at 3862 Gly to Arg at 1244
c.3731G>A p.Gly1244Glu G1244E exon 23 G to A at 3863 Gly to Glu at 1244
c.3731G>T p.Gly1244Val G1244V exon 23 G to T at 3863 Gly to Val at 1244
c.3870A>G P1290P (4002A/G) exon 23 A or G at 4002 sequence variation
c.4280T>C p.Ile427Thr I1427T exon 27 4412T>C
c.4389G>A 4521G/A exon 27 G or A at 4521 sequence variation
c.*2G>A 4575+ 2G- >A 3'UTR G to A at 4575+ 2 Splicing




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The Database was last updated at Apr 25, 2011