Involvement in disease

The syntax ‘Defects in [GENE NAME] are/may be THE cause…’ is used when the disease is/may be caused by mutations in one given gene only. If the phenotype is/may be caused by mutations in different genes (locus heterogeneity) or mutations in 1 gene are not sufficient for disease manifestation, we use the syntax ‘Defects in [GENE NAME] are/may be A cause…’.
Examples: Q01718, P25054

If available, OMIM accession numbers corresponding to entries dealing with phenotypes (or combining description of genes and phenotype) are added to this subsection, as well as to the ‘Cross-references’ section in the ‘Organism-Specific Databases’ subsection. This latter also provides links to OMIM entries describing the gene itself.
Examples: Q01718, P84996

The annotation style of complex disorder associated with alterations in so-called “susceptibility genes” (rather than “causative genes”) does not follow a strict syntax, but depends on the content and the message of the article.

Chromosomal rearrangements (translocations, inversions) are described in this subsection.
Examples: P11308, Q15532, Q16385

If the position of the translocation breakpoint is known on the sequence and causes a fusion protein, it is annotated in the ‘Site’ subsection of the ‘Sequence annotation (Features)’ section.
Example: In Q8IZP0, the annotation in the ‘General annotation (Comments)’ section is completed by information in the ‘Sequence annotation (Features)’ section.
Related keyword: Chromosomal rearrangement.

Link to relevant documents