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

↵Numbers indicate percent Yes unless otherwise indicated. Study period was from June 21 to July 18, 2001.

Clinical information or information for patients only.

USA 28, UK 14, FR 9, FIN 8, NL 8, CA 8, BEL 4, SW 3, GER 3, IS 2, AUS 1, DEN 1, IRL 1 IT 1, JP 1, NZ 1, SP 1.

Not including links to OMIM.

3D models, schematic models, protein maps, protein mutation maps, linkage, tissue distribution.

Phylogenetic tree, maps of interacting proteins, primer sequences, methods, comments and source of mutations, therapies.

Including one subscription to have access to the most recent data.

Other software include pdf, Filemaker Pro, excel, JAVA, UMD, MuStar, LINUX, mySQL, Mutation View, MUTbase.

Antonarakis et al. 1998.

Linkage, Iocus, CpG, genotype, domain, reference, consequences, exon, amino acid change, sample source, detection methods, chromosomes, proband tumour type, nucleotide change, restriction site change, intragenic position, RNA change, keyword, accession number, OMIM number.

Data collected January 2002.