Conservation scoreThe residues are evolutionarily important. Score varies between 0 (less conserved) and 1 (more conserved)
Chromosome Number : Genome PositionMutation at genomic position on a chromosome
Database1) 1000 Genomes, 2) ClinVar, 3) COSMIC, 4) Humsavar, 5) SwissVar.
DiseaseName of the disease, or the disease tissue sample (in the case of COSMIC cancer data) in which mutations have been found.
Disease Class Human disease class as per Kyoto Encyclopedia of Genes and Genomes (KEGG)
DNA mutationGene level mutation (Eg. TCC → TGC)
Domain Protein domain as per Pfam, in which the given residue is present. List of Domains
FunctionFunction of the protein as given in the UniProt. List of Functions
Gene nameName of the gene that codes for the protein sequence. List of Gene names
Mutation EffectA given mutation is disease-associated or neutral.
Disease: Mutation reported as disease-associated.
Neutral: Limited or no evidence on the pathogenic role of the mutation.
Mutation TypeTypes of mutation. Namely, Insertion, Deletion, Missense and Nonsense
Neighboring residues The neighboring residues of the mutation site on both N and C terminals using a window length of 7
OriginOrigin of the mutation whether it is Germline, Somatic or unknown
Germline: mutation occurs in a germ cell
Somatic: mutation occurs in a somatic cell
Unknown: origin unknown
PDB ID and 3D viewProtein 3D-structure ID from Protein Data Bank and a link to the JSmol 3D viewer (More about the viewer)
Post-translational modification (PTM)Post-translational modification that is affected by the variant. List of Post-translational modifications
Protein mutationProtein level mutation Eg. Glu (E) → Lys (K)
rs ID numberA reference SNP ID number, or 'rs ID', is an identification tag assigned by NCBI to a group (or cluster) of SNPs that map to an identical location.
Secondary StructureSecondary structure of the residue; Helix (H), Turn (T) or Sheet (E). Given secondary structure for a residue is a consensus of secondary structures given in related PDB structures.
Subcellular localizationThe subcellular location in which the protein resides. List of subcellular localizations
UniProt IDUniProtKB accession number of the protein sequence. List of UniProtKB accession numbers
UniProt ID (canonical/isoform)UniprotKB accession number of the canonical sequence in the case where the mutation matches with the canonical sequence, or the accession number of the isoform sequence if the mutation matches with the isoform sequence.