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Article

The DBSAV Database: Predicting Deleteriousness of Single Amino Acid Variations in the Human Proteome.

Journal of molecular biology - 28 May 2021

Pei Jimin, Grishin Nick V

Abstract excerpt

Deleterious single amino acid variation (SAV) is one of the leading causes of human diseases. Evaluating the functional impact of SAVs is crucial for diagnosis of genetic disorders. We previously developed a deep convolutional neural network predictor, DeepSAV, to evaluate the deleterious effects of SAVs on protein function based on various sequence, structural, and functional properties. DeepSAV scores of rare...

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Identifiers

PMID: 33676930
DOI: 10.1016/j.jmb.2021.166915
PMCID: PMC8119332

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