Mutalyzer

Mutalyzer is a web-based software tool which was primarily developed to check the description of

Genetic testing is generally performed in families with hereditary disease. Any sequence variant identified in a gene can be described in test reports using the position of the change and the nucleotide or amino acid involved. With this simple rule, a deletion of the nucleotide guanine (G) in a stretch of 4 G nucleotides might be described in 4 different ways, when each of the G positions is used. Although different descriptions do not affect the functional consequences of the change, they may obfuscate the fact that two persons share the same variant or the real frequency of a variant in the population. The standard human sequence variant nomenclature proposed by the Human Genome Variation Society was developed to solve this problem.^[2] Proper variant descriptions are expected to facilitate searches for more information about the functional consequences in the literature and in gene variant or locus-specific databases (LSDBs).

Mutalyzer is used by the Leiden Open Variation Database (