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  Splicing
    Mutation
      Database  v1.2 		Bechtel J M, Rajesh P, Ilikchyan I, Deng Y, Mishra P K, Wang Q, Wu X, Afonin K A, Grose W E, Wang Y, Khuder S, and Fedorov A

NOTE: Gene info, including exon number, is taken from the Exon-Intron Database (EID), version hs36p1. These exon numbers may not agree with those in other references.
paper Relevant paper: Shepelev V., Fedorov A. Advances in the Exon-Intron Database (EID). Briefings in Bioinformatics 2006, 7: 178-185. (PDF 111KB)

NOTE: Local RNA secondary structures are predicted using the RNALfold utility from the Vienna RNA package, version 1.6.1 (released May, 2006), with default parameters and a window size of 30. Only putative local RNA structures with a given strength threshold (-10.0 kcal/mol) were loaded.
paper Relevant paper: Ivo L. Hofacker, Walter Fontana, Peter F. Stadler, Sebastian Bonhoeffer, Manfred Tacker, and Peter Schuster. Fast folding and comparison of RNA secondary structures (the Vienna RNA Package). Chemical Monthly, 125(2):167-188, 1994. (doi:10.1007/BF00818163)

NOTE: All wild-type sequences are derived from the Exon-Intron Database (ref.), which is, in turn, based on GenBank build 35.1 of the human genome.
warning The only wild-type sequences that differ from this source are those for the "SMN1" gene, exon #8. In the version of the genome upon which the EID was built, there was not yet a separate entry for "SMN2" in which the sixth nucleotide of that exon is 'T' instead of 'C'. Instead, the EID contains the sequence for "SMN2", in which the start of exon #8 is 'GGTTTT', under the name "SMN1". Thus, all entries for this gene pair are linked with a single gene entry named "SMN1", but entries 79-81asmd actually pertain to what is now recognized as "SMN1", and their wild-type and mutant sequences reflect that. In addition, mutation '1asmd' refers to the natural SMN1 to SMN2 mutation itself. A future release based on a more recent build of the human genome will resolve this issue.

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This material is based upon work supported by the National Science Foundation under Grant No. 0643542.   Any opinions, findings and conclusions or recommendations expressed in this material are those of the author(s) and do not necessarily reflect the views of the National Science Foundation (NSF).