Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites.

doi:10.1002/humu.1380060114

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Article

Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites.

Human mutation - 1 Jan 1995

Rogan P K, Schneider T D

Abstract excerpt

Predicting the effects of nucleotide substitutions in human splice sites has been based on analysis of consensus sequences. We used a graphic representation of sequence conservation and base frequency, the sequence logo, to demonstrate that a change in a splice acceptor of hMSH2 (a gene associate...

Topics

Base Sequence
Consensus Sequence
Humans
Mutation
Polymorphism, Genetic
RNA Splicing

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