Mutations in ribosomal proteins RPS19, RPS24 and RPS17 have been reported in 
Diamond-Blackfan Anemia (DBA), an autosomal dominant disease characterised by 
pure red cell aplasia. DBA is the prototype of ribosomapathies: a protein 
synthesis defect in a tissue with a high cellular turnover is considered the 
cause of the erythroid progenitor failure. We have created the Diamond-Blackfan 
Anemia mutation database to curate and record DBA gene mutations, together with 
their functional consequences and clinical phenotypes. This locus-specific 
resource is open to future submissions and is available online 
(http://www.dbagenes.unito.it). It is founded on the Leiden Open (source) 
Variation Database (LOVD) system and includes data from sequence and structure 
analysis tools, genomic database resources and published reports. It lists all 
identified variants and background genomic information. Phenotypic data are 
accessed by selecting a particular mutation. The database includes 219 unique 
variants of which 86 are disease-causing mutations. The database will be 
supplemented with other DBA genes as soon as they are reported and their 
mutations are identified and it should be of assistance to clinicians and 
investigators involved in DBA research and care.