Subscribing to HGMD® Professional offers many benefits that are not available within the Public version of HGMD (in which 3 year old data are currently only free to registered users from academic institutions and non-profit organizations). These enhanced features can accelerate your research and help you to formulate new hypotheses for future study.
Feature | HGMD Professional | HGMD Public |
Up-to-date Mutation Data | Yes | No |
Full Coverage of PubMed journals | Yes | Yes |
Gene Centric Search | Yes | Yes |
Mutation Centric Search | Yes | No |
Reference Centric Search | Yes | No |
Boolean Full Text Searching | Yes | No |
View Mutation Data by Type | Yes | Yes |
View Mutation Data by Disease/Phenotype | Yes | No |
cDNA Sequences | Yes | Yes |
Extended cDNA Sequences | Yes | No |
Expanded Gene-specific Information | Yes | No |
Expanded Mutation-specific Information | Yes | No |
Advanced Search Tools | Yes | No |
Mutation Viewer/Maps | Yes | No |
Genomic Coordinates for | Yes | No |
Search for Functional Polymorphisms | Yes | No |
HGVS Nomenclature for Missense/Nonsense Mutations | Yes | No |
Links to Entrez dbSNP (using rs numbers) | Yes | No |
Provision of Additional Literature References | Yes | No |
Search/Display of Gene Ontology Terms | Yes | No |
Downloadable Version | Yes | No |
Read more about the benefits of HGMD Professional.
For more information on subscription options, please contact our sales team.
Up-to-date Mutation Data: Assess novelty and/or pathogenicity of newly discovered mutations.
Expanded Search Engine: User-friendly, topic-centric interface offering access to the latest data:
- Search for specific genes, disease states, mutations and literature references utilising a wide range of options
- Advanced Search Capability: An advanced suite of software tools designed to enhance mutation searching, viewing and retrieval.
- Full text Indexing
- Boolean Mode
- Wildcard
Advanced Search Features:
- Quick search of all features in all available tables at the same time
- Browse disease genes by chromosomal location
- Search for different types of nucleotide substitutions
- Analyze size and sequence context of small micro-lesions
- Motif searching for nucleotide substitutions and micro-lesions
- Access Dynamic Mutation Viewer depicting mutations superimposed over the cDNA sequence of a gene
- Download your results
Missense mutation data are complemented by the provision of additional comparative biochemical information to establish:
- Change in residue polarity
- Change in pH
- Change in residue weight
- Change in hydrophobicity
- Change in secondary structure propensity
- Grantham difference between substituted and substituting residue
Enhanced Gene/Mutation Summaries:
- Mutation disease and clinical/laboratory phenotype data
- Links to first published mutation report(s)
- Links to related genes
- Expanded cDNA sequences including intronic flanking sequence information
- Links to Gene Ontology terms
- Links to additional references for specific mutations
- Editorial comments
- Links to dbSNP (where identified)
Enhanced Mutation-specific Level Data:
- Expert level annotation for particular mutations
- Short descriptive text for missense mutations
- Nucleotide and amino acid sequence context of mutations
- Comparative information on the amino acid change including changes in polarity, pH, residue weight and comparative hydrophobicity; secondary structure propensity as an indicator of mutational pathogenicity
- Whether mutation affects CpG dinucleotide(s)
- Pairwise amino acid alignments for all missense mutations to look for sequence conservation utilizing orthologous sequences from Mus musculus, Rattus norvegicus, Gallus gallus, Canis lupus familiaris, Felis catus, Sus scrofa, Orvis aries, Bos taurus, Macaca mulatta, Takifugu rubripes and Pan troglodytes (where available).
- Genomic coordinates linked to the UCSC Genome Browser
- HGVS nomenclature
Fully Downloadable Version: Access SQL tables for more powerful integration with in-house resources (in accordance with our usage terms).
For more information on subscription options, please contact our sales team.
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