Mutations & Gene

April 7th, 2016 |

Mutations in the ABCD1 gene

As of July 2013, mutations are arranged according to their nucleotide position.

For many years, two different nucleotide-numbering systems for reporting ALD mutations were used.

In previous versions of the ALD database we reported mutations annotated following both numbering systems, but in 2010 decided to convert all mutations to the second and correct system with A of the initiator methionine codon as +1.

The ALD database reports all mutations conform conform the nomenclature recommended by the Human Genome Variation Society. All mutations, including those that have been published in the past, are annotated using the “Alamut” software package.

The column headed “ALDP” indicates the effect of the mutation on the ALD protein assessed in fibroblasts by immunofluorescence and /or protein blot analysis. (n.d.) = unknown, no data provided.

Note: unpublished mutations (unpublished data) may not be used for publication purposes without prior approval from the editor of the database and the laboratories/investigators that have identified these mutations.

afbeelding van de Engelse vlag English    afbeelding van de Nederlandse vlag Nederlands    afbeelding van de Franse vlag Français   afbeelding van de Spaanse vlag Español   afbeelding van de Duitse vlag Deutsch