Mutations & Gene

November 20th, 2012 |

Mutations in the ABCD1 gene

All mutations that are reported in the database are arranged according to their amino acid positions.

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

• The first, introduced in 1993 by Mosser et al., used the first nucleotide of the cDNA as number +1 (in this system, the “A” of the initiator methionine (ATG) codon is nucleotide number 387).
• The second, introduced in 1995 by Kok et al., used the conventional method in which the A of the initiator methionine codon as +1.

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Note: unpublished mutations (unpublished data) may not be used for publication purposes without prior approval from the editor of the database and the laboratories/investigators that have identified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