MAT - Mutation Analysis Tool

How will the base pair change you've discovered change the amino acid sequence of Nav1.1? Is the mutation you're looking at an in-frame deletion? Or an in-frame insertion? Does it affect splicing? Where does a particular base-pair exchange locate to in the topology of the channel? Has the mutation been reported before? What is the nucleic acid basis for a mutation that has only been reported at the amino acid level? The Excel file provided for download on this page provides a user-friendly interface that allows the researcher to quickly gather a great amount of information (nucleic acid as well as amino acid) on any mutation in SCN1A. 

Note that simple changes in the sequence data can convert the Excel workbook into an application that accommodates any other gene/protein pair and its splice variants. An online implementation of this tool is currently under development (from hereon called "Mutation Analysis Tool" as opposed to the original name "Mutation Checker") that will allow analysis of any user-entered sequence.   

Note: This file contains macros. You may get a security message asking you wether you will enable macros or not. To use the file properly, macros must be enabled.

History - M.A.T.:

  • Ver 1.8:
    • New "Reverse Substitution" implemented that allows to estimate the most possible nucleic acid change for a protein-only reported mutation. The complex "Deletion/Insertion" feature (i.e., combined deletion and insertion) is still buggy.

  • Ver 1.7:
    • Several iterations had to be skipped due to extensive make-over of the DELETION application; simultaneous DELETIONINSERTION not yet fully functionally and therefore locked

  • Ver 1.4:
    • bug in deletion computation: noticed incorrect calculation in the DELETION application with non-frameshifting deletions; will correct this shortly and upload an updated version... until then I am suspending any downloads of M.A.T.

  • Ver 1.3:
    • implemented REVERSE SUBSTITUTION to calculate the nucleic acid basis for a single-residue amino acid exchange

  • Ver 1.2:
    • fixed errors in INSERTION mutation calculation

  • Ver 1.1:
    • adoption of HGVS nomenclature and implementation of several new mutation calculations in DELETION and INSERTION

  • Ver 1.0: 
    • simple name change from "Mutation Checker" to "MAT - Mutation Analysis Tool" based on the re-engineering of the Excel workbook into an online tool; Ver 1.0 however is identical to "Mutation Checker (Ver 4.6)

History - Mutation Checker (retired)

  • Ver 4.6:
    • minor cosmetics, manual updated to Ver 1.1
  • Ver 4.4:
    • some cosmetics
  • Ver 4.3:
    • fixed a couple typos
    • added instruction manual
  • Ver 3.1:
    • now with insertion test (in-frame capable)
  • Ver 3.0:
    • in-frame deletion bug removed
  • Ver 2.5:
    • more user-friendly interface
    • deletion check implemented
Christoph Lossin, Ph.D.,
Jan 16, 2011, 2:07 PM
Christoph Lossin, Ph.D.,
Sep 1, 2010, 10:04 AM