You can carry out a variety of different searches varying from simply returning the variants within a simple FIX domain to complex
queries that retrieve variants of a certain phenotype, amino acid type and from specific authors over a range of domains in the
Haemophilia B 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 as a HTML interface, where patient data can either be displayed or omitted at the touch of a button.
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, taken from the following files : RefSeq #: NM_000133.3.
Patient Data
Patient data can be displayed for each variant on the results page by clicking "SHOW" under the Patient Data column.
The patient data in this database is taken where possible from the literature reporting on the variants. It includes the results of FIX:C and FIX:Ag assays for the reported patients and also has comments on any experimental data on the variant protein.
References
Each patient record has a reference field quoting the reference that originally discussed the patient and variant.
Where variants do not have patient records - references are quoted in the comments field. References are quoted in full using the reference link and the pubmed entry for the variant can be displayed be clicking the link.
