Ensuring cellular protein homeostasis, or proteostasis, requires precise control of protein
synthesis, folding, conformational maintenance, and degradation. A complex and adaptive …

More than 50% of human tumors carry TP 53 gene mutations and in consequence more
than 45,000 somatic and germline mutations have been gathered in the UMD TP 53 …

We present a web server to predict the functional effect of single or multiple amino acid
substitutions, insertions and deletions using the prediction tool PROVEAN. The server …

Accurate deleteriousness prediction for nonsynonymous variants is crucial for distinguishing
pathogenic mutations from background polymorphisms in whole exome sequencing (WES) …

As next-generation sequencing projects generate massive genome-wide sequence
variation data, bioinformatics tools are being developed to provide computational …

Single nucleotide variants represent a prevalent form of genetic variation. Mutations in the
coding regions are frequently associated with the development of various genetic diseases …

The rate at which nonsynonymous single nucleotide polymorphisms (ns SNP s) are being
identified in the human genome is increasing dramatically owing to advances in whole …

As large-scale re-sequencing of genomes reveals many protein mutations, especially in
human cancer tissues, prediction of their likely functional impact becomes important …

The effect of genetic mutation on phenotype is of significant interest in genetics. The type of
genetic mutation that causes a single amino acid substitution (AAS) in a protein sequence is …

Background Whole exome sequencing studies identify hundreds to thousands of rare
protein coding variants of ambiguous significance for human health. Computational tools are …