Time for a Unified System of Mutation Description and Reporting: A Review of Locus-Specific Mutation Databases

Table 4.

A Ideal LSDB Homepage

General information Links to other servers Information for patients or clinicians Gene and Protein
Name, Web address, FTP location Gene related sites Disease Species
Contact curator Disease related sites Treatment Gene symbols and synonyms
Goals of Database and Guidelines Genome databases (HUGO, GDB..) Mutations in other Species Genetic locus (approved  nomenclature)
Date of Creation Disease databases (OMIM..) Diagnosis Chromosome location
Last Update Sequence databases Reference sequence
List of options (DDBJ/EMBL/GenBank/NCBl..) Protein function
List of Consortium members Protein Databases (SwissProt..) Tissue distribution
List of Contributors Central mutation databases (HGMD..) Structures including 3D
Literature reference to the database Bibliographic databases (MEDLINE) Phylogenic tree
Copyright notice Expression analysis
Disclaimer Molecular modeling
B Ideal LSDB Mutation or Polymorphism Data
Mutation submission form Mutation tables Quality control of data
Recommended Allele Nomenclature use Complete Mutation table MDI Quality Assurance checklist
HUGO-MDI Allele variant entry form use Summary Tables EMQN
Polymorphism Table Approved Primer Sequences
Graphical Displays Approved Technical Protocols
Statistics
Patient data Search by mutation Search by type of mutation
Unique Database Identifier Systematic name (HUGO) Missense
Sample source and ID Trivial name Nonsense
Genotype Exon, intron, UTR, Other Post-elongation
Origin-geographic CpG site Deletion frameshift
Origin-ethnic Restriction Enzyme site Deletion in-frame
Phenotype Amino Acid change Deletion in UTR
 Molecular RNA change Deletion of exons
 Clinical Method of Detection Insertion frameshift
Inheritance Haplotype Insertion in-frame
Environmental exposures Population data Complex
Submitter and date of report Splice site
Reference (with link to MEDLINE) Silent substitution
Multiple DNA changes in one allele Disease-causing mutation
Penetrance Change not causing disease
Comments Don't know

This Article

  1. Genome Res. 12: 680-688

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