This database has been compiled to provide up-to-date information about mutations of the adenylosuccinate lyase (ADSL) gene. It aims at making the information readily accessible to anyone interested in the genetic variations of the ADSL gene, and to provide an easy way for those who investigate these variations to report their most recent findings.
In the two first ADSLdb options, information is given about the location of adenylosuccinate lyase in purine metabolism and its inborn deficiency. More detailed reviews on these subjects can be found in references 1 3 in the Reference List (Option 7).
The first published cDNA sequence of human liver ADSL listed an open reading frame of 1377 nucleotides (reference 4). Reevaluation of this sequence has, however, revealed that the open reading frame comprises 1452 nucleotides, and encodes a protein which is 25 amino acids longer at the N-terminus (references 5 and 6). This finding prompted relabelling of a number of previously published mutations, which is described in detail under Important note on nomenclature.
The list of mutations was collated from published articles and abstracts, from presentations at meetings, and from personal communications. We are particularly indepted to the patients, the families, and the referring physicians and investigators who contributed these data.
Please contact us at the following address to give any useful comments, suggestions, and additions that you might have :
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