mutationassessor.org
functional impact of protein mutations
release   2  
cBio@MSKCC

papers | about | changes | how it works

The server predicts the functional impact of amino-acid substitutions in proteins, such as mutations discovered in cancer or missense polymorphisms. The functional impact is assessed based on evolutionary conservation of the affected amino acid in protein homologs. The method has been validated on a large set (60k) of disease associated (OMIM) and polymorphic variants. To explore the functional impact of missense mutations found in The Cancer Genome Atlas please use Cbio portal

  Sep 13th    Release   2   is out!
Scores for all missense variants in the human reference genome are available: hg18, hg19 (620mb each)
  Enter your mutations

read about input format or use example



 download as .csv file     

  Configure output

mapping issue      variant based on reference genome
start of a codon, isoforms, link to UCSC browser
position/residue in Refseq/Uniprot proteins
user data (any text after variant printed in separate column)
individual scores, misc. msa info
number of COSMIC alterations and SNPs in RefSeq protein
COSMIC ( detailed) / SNPs in RefSeq position
known functional regions of Uniprot protein
nearby Pfam domains
all Pfam domains in a protein
binding sites (directly computed from PDB structures)
 




Computational Biology Center | Memorial Sloan Kettering Cancer Center