Searches
- You can carry out a variety of different searches varying from simply returning the variants within a single FVIII domain to complex queries that retrieve variants of a certain phenotype, amino acid type and from specific authors over a range of protein domains in the Haemophilia A variant database.
- The search forms are quite simple and if no fields are filled in the search will return all variants within the database. The results of each search are shown in a listing, where case data can either be displayed or omitted at the touch of a button. Alternatively, tabular views and downloadable spreadsheet options are available.
Reference Sequences, Nucleotide and Amino-Acid Numbering
- The reference sequence used for FVIII protein is NP_000123.1 and its corresponding stable Locus Reference Genomic DNA sequence (LRG) is LRG_555.
Variant Data
- The nucleotide description for each variant includes the nucleotide number, where, following HGVS guidelines c. represents cDNA.
- Sequences are numbered from +1 starting with the A of the ATG initiation codon.
Case Data
- Case data can be displayed for each variant on the results page by using the "Show" button next to the Individual Case Information heading.
- The case data in this database is taken where possible from the literature reporting on the variants. It includes the results of FVIII:C and FVIII:Ag assays for the reported patients and also has comments on any experimental data on the variant protein.
References
- Each case record has a reference field quoting the reference that originally reported the case and variant. References are quoted in full using the reference link and the PubMed abstract entry for the variant can be displayed by clicking the link.