Human Gene Mutation Database

The Human Gene Mutation Database comprises various types of mutation within the coding regions of human nuclear genes causing inherited disease. Somatic mutations and mutations in the mitochondrial genome are thus not included, although in the latter case, links to Mitomap are now provided. Each mutation is entered only once in order to avoid confusion between recurrent and identical-by-descent lesions. Mutations inferred from amino acid sequencing have been excluded since, in the absence of direct DNA analysis, some ambiguity may exist as to the DNA sequence changes involved. Silent mutations within the coding region which do not alter the encoded amino acid are also not recorded. If such mutations are known to adversely affect mRNA splicing or gene expression, or have been reported in significant association with disease, they may be included. (Institute of Medical Genetics, Cardiff University).

Last update 04-Jun-2008, Rating Poor of 1 votes.