Mutations & Gene

November 5th, 2013 |

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 X-ALD mutations have been used.

In previous versions of the X-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.

All mutations are indicated conform to the nomenclature recommended by the Human Genome Variation Society. Mutations are annotated using the “Alamut” software package.

The column headed ALDP indicates the presence or absence of ALDP in fibroblasts as indicated by immunofluorescence and /or protein blot analysis. (n.d.) = 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Note: unpublished mutations (unpublished data) may not be used for publication purposes without prior approval from the editor of the database and the laboratories/investigators that have identified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.

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