ALT SPL MUT DB

Alternative Splicing Mutation Database

Bechtel J M, Rajesh P, Ilikchyan I, Deng Y, Mishra P K, Wang Q, Wu X, Afonin K, Grose W E, Wang Y, Khuder S, and Fedorov A
NOTE: This is the final 1.0 release of the ASMD. All substitution mutations now have a note describing the codon change involved, based on the exon phase according to the EID. Entry 11 was found to describe a substitution in the last position of its exon (so, in a splicing junction) and had to be removed. A deposition form will be forthcoming.
NOTE: Later releases of the ASMD are now available by following this link. It has a much improved interface, many more entries, a true relational database back-end, and a public deposition form. This site is preserved for now, but may disappear in the future. The link to the more permanent home for the 1.0 release is http://mco321125.meduohio.edu/~jbechtel/asmd/1.0/. Please update any bookmarks to reflect the new location.


References for ASMD Entry #19   [Notes]   [Exon]
REFERENCE: [Pubmed: 11810271] Tzetis, M. et al. Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A.G, 2751+2T.A, 296+1G.C, 1717-9T.C-D565G) and one nonsense mutation (E822X) in the CFTR gene. Hum Genet, 2001, 109: 592-601

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