Other Useful Links
Codon / amino acid abbreviations
- A table outlining which triplet codon codes for which amino acid, along
with the acknowledged three and one letter abbreviation.
- A table outlining the acknowledged single letter abbreviations for each
base or set of bases.
- 5' (donor) and 3' (acceptor) consensus splice sequences.
- Nomenclature for the description of sequence variations.
Mutation nomenclature publications
- Links to literature on the subject of mutation nomenclature.
Below are useful links to other sites of interest involved with the dissemination
of information in the fields of genetics, mutation research and mutation databases.
1000 Genomes Project
- A Deep Catalog of Human Genetic Variation.
- Aims to support checks of sequence variant nomenclature according to the guidelines of the Human Genome Variation Society.
Database of Genomic Variants
- A curated catalogue of structural variation in the human genome.
Keio Mutation Databases
- An integrated database for human disease-associated gene mutation and polymorphism
(HD-GMP). Includes KMeyeDB, KMheartDB, KMearDB, KMbrainDB, KMcancerDB, KMsyndromeDB,
KMaiDB (autoimmune), KMmuscleDB and KMbloodDB. Maintained by Keio University
School of Medicine.
Interactive Editor for Multiple
Sequence Alignments STRAP
- An editor for multiple sequence alignments of proteins. The computer program
STRAP supports the analysis of hundreds of proteins and integrates amino acid
sequence, secondary structure, 3D-structure and genomic- and mRNA-sequence
and residue annotation.
Online Mendelian Inheritance in
- A catalogue of human genes and genetic disorders. Individual gene entries
include some information regarding causative mutations.
- AmiGO is an HTML based application which allows the user to browse, query
and visualize data from the Gene Ontology, or any ontology in OBO format.
EBI mutation page
- Contains information about services and research at the European Bioinformatics
Institute (EBI), along with a listing of upcoming conferences.
Human Genome Variation Society
- Formerly the HUGO Mutation Database Initiative (Melbourne).
Human Mitochondrial Genome Database (MITOMAP)
- A compendium of polymorphisms and pathogenic mutations of the human mitochondrial
- Formerly GenLine, the medical genetics knowledge base. Provides
information (disease profiles) regarding various genetic disorders.
- A genetic testing resource including an Introduction to Genetic Counseling
and Testing concepts, a Genetics Laboratory Directory, and a Genetics and Prenatal
Diagnosis Clinic Directory. A one-time registration is needed for this free service.
- GeneCards™ is a database of human genes, their products and their involvement
in diseases. It offers concise information about the functions of all human
genes that have an approved symbol, as well as selected others.
- The goal of GeneSNPs is to provide an integrated, gene-centric view of cDNA,
genomic and SNP sequence information for human genes.
- SNPedia shares information about the effects of variations in DNA, citing peer-reviewed scientific publications. It is used by Promethease to analyze and help
explain your DNA.
- dbSMR is a database of all miRNA binding sites within 200 nt of SNPs which may affect miRNA accessibility to the target site, thereby altering the regulation.
- Integrated information about SNPs collected from the PubMed and OMIM databases.
Coriell Cell Repositories
- The human genetic mutant cell repository. Contains well characterised
cell cutures and derived DNA samples.
Human Genome Variation Database (HGVbase)
- A database of intra-genic sequence polymorphisms. Formerly HGBASE.
- A global collaboration of individuals and organizations who develop and
communicate epidemiologic information on the human genome.
H-Invitational Database (H-InvDB)
- H-InvDB is an integrated database of human genes and transcripts.
VarySysDB at H-Invitational
- Genetic polymorphism database
- HuGE Navigator provides access to a continuously updated knowledge base in
human genome epidemiology.
Published association database (PADB)
- Aims to help researchers utilise information more efficiently from published
- A database of single nucleotide polymorphisms.
- Gene Oriented Polymorphisms Database. Contains polymorphisms of the human
genome, especially from gene related sequences.
- Human Genetic Disease Database.
Segmental Duplications Database
- Contains information about segmental duplications in the human genome.
The data presented is based on the analysis of the May 2004 Assembly of the Human Genome (also known as NCBI Build 35, or UCSC hg17).
Arab genetic disease database (AGDDB)
- A curated catalog of genetic disorders found in Arab populations
the Allele Frequency Database
- Maintained by the Kidd
laboratory, Yale University.
FIDD, Frequency of Inherited Disorders Database
- Maintained at
the Institute of Medical Genetics here in Cardiff.
- A curated protein sequence database with a high level of annotation.
- A comprehensive catalogue of biological databases, maintained at GIS Infobiogen.
biology database list
- A list of various databases
which have been described in the database issue of Nucleic Acids Research.
Molecular Class-Specific Information System
- A relational database-centered system to aid researchers with the collection
and dissemination of data.
DNA Methylation Database
- The purpose of this database is to provide the scientific community with a
resource to store DNA methylation data, search for methylation patterns and profiles,
and correlate methylation and expression data of genes.
Human Cytogenetics Forum
- The HC Forum offers assistance for diagnosis,
genetic counselling and cartography. Please note that a password is required for
of Genetics and Cytogenetics
- The aim of the Atlas is to give
concise and updated reviews on genes, cytogenetics and clinical entities in cancer,
and on cancer-prone diseases.
- Software and databases for mutations in human genes.
- UTResource collects data and provides analysis tools for the functional
classification of 5' and 3'UTRs of eukaryotic mRNAs.
Gene Mutation Database
- The Mammalian Gene Mutation Database (MGMD)
is a searchable database of published mutagen induced gene mutations in mammalian
- Contains reference information on artificially
produced mutations in ion channels with known sequences.
- 16S and 23S ribosomal RNA mutation database covering different organisms (includes human mitochondrial).
Protein Mutant Database (PMD)
- Includes both natural and artificial protein mutants reported in the literature.
WHO Genomic Resource Centre
- The site provides an overview of the issues and concerns around genomics
and public health and, in particular, addresses the ethical, legal and social
implications (ELSI) of genomics.
Automated Splice Site Analyses
- A web interface that provides a tool to predict the effects of sequence
changes that alter mRNA splicing in human diseases. The system is designed
to evaluate changes in splice site strength based on information theory-based
models of donor and acceptor splice sites.
Encyclopedia for Genetic Epidemiology
- Aims to collate information and links about and for genetic research studies
relevant to population genetics and health
- A database for repeat prioritisation
- Curates information that establishes knowledge about the relationships among
drugs, diseases and genes, including their variations and gene products to
catalyze pharmacogenomics research.
Comparative Toxicogenomics Database
- The Comparative Toxicogenomics Database (CTD) elucidates molecular mechanisms
by which environmental chemicals affect human disease.
- A human genetic polymorphism database.
- The objective of EUROGENE is to establish a European reference portal for genetic medicine that will bring together many
multimedia resources into a single organised site
- Database of splice translational efficiency polymorphisms
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