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 Please update any bookmarks to reflect the new location.

Notes for ASMD Entry #9   [References]   [Exon]
NOTES: missense mutation [GGA(Gly) -> AGA(Arg)] at codon 1302; maintains reading frame, so does not induce secondary nonsense codon. It is unclear from the paper whether the patient (#1645) is homo- or heterozygous for this particular mutation. Therefore, we gave splicing effect value of -0.5. In the case that the patient is heterozygous or compound, SE should be about -0.9.

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