Glossary Entry Entry number Gene name Name of the gene that code for the protein sequence Protein name Name of the the protein UniProt ID UniProtKB accession number of the protein sequence PDB ID Protein 3D-structure ID from Protein Data Bank Mutation site - 3D structure The mutation site has experimentally determined 3D-structure which is available in Protein Data Bank database Type of mutation Different types of mutations Eg. Insertion, Deletion and Missense Wild-type Name of the wild-type residue Mut Name of the mutant type residue Position position in protein sequence Sort by The results are sorted by either ascending or descending order Effect of mutation A given mutation is disease-associated or neutralDisease: Mutation reported as disease-associatedNeutral: Mutation that doesn't implicated in disease Interface Whether the mutation site is located in the interface of protein-protein complexes or not Protein spanning the membrane Number of times the protein cross the cell membrane 1.Single-pass: cross the cell membrane only once 2. Multi-pass: cross the cell membrane more than once Topology Location of the mutation site in the cell membrane1. Inside or cytoplasm 2. Membrane 3. Outside or extracellular membrane 4. Signal sequence Disease name Name of the disease or the disease sample (in the case of cancer) in which muations have been found Disease class 14 different classes based on Kegg Human disease Source of the database Name of the data source1. Humsavar 2. SwissVar 3. ClinVar 4. COSMIC 5. 1000 Genomes Origin Origin of the mutation whether it is Germline, Somatic or unknownGermline: mutation occurs in a germ cellSomatic: mutation occurs in a somatic cellUnknown: origin unknown Chromosome number and Genome position Mutation at genomic position on a chromosome Nucleotide mutation Gene level mutation (Eg. TCC -> TGC) Protein mutation Protein level mutation Eg. Glu (E) ->Lys (K) Number of domains Number of transmembrane domains UniProt ID (canonical/isoform) UniprotKB accession number of the isoform in the case where the mutation matches to the isoform sequence Neighboring residues The neighboring residues of the mutation site on both N and C terminals using window length 7 Conservation score The residues are evolutionary important. Score varies between 0 (very less conserved) and 1 (more conserved) Odds ratio Cohorts from The Cancer Genome Atlas (TCGA) and from non-cancer population (nonTCGA) using its chromosomal location.
