Welcome to the Mutalyzer web site!

Mutalyzer aims to support checks of sequence variant nomenclature according to the guidelines of the Human Genome Variation Society.

Mutalyzer has different interfaces to collect the information necessary for the checks:

Mutalyzer's Name Generator is the standard interface. This form collects the input data in separate fields and will present the output underneath allowing easy correction of mistakes.

Mutalyzer's Name Checker takes the complete sequence variant description as input and checks whether it is correct.

Mutalyzer's SNP Converter converts a dbSNP identifier into a sequence variant description in HGVS-format.

Mutalyzer's Batch Checker takes a tab delimited text file containing the sequence variant descriptions to check.

Mutalyzer's GenBank Uploader allows you to upload and use your own reference sequences for checks of sequence variant descriptions. For this, you will need a text file in GenBank format. Alternatively, you may specify the HGNC gene symbol or the chromosomal range corresponding with the sequence to be uploaded.

The Mutalyzer Engine performing the checks is Python-powered. The Python Scripting Language was chosen for good readability and therefore easy maintenance.

Mutalyzer development is supported in part by

"Since references to WWW-sites are not yet acknowledged as citations, please mention "Wildeman M et al. (2008). Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 29, 6-13" when referring to these pages."