ADSL
Gene name: adenylosuccinate lyaseOMIM ID: 608222
Chromosome location: 22q13.1
Mutations
| Disease/Phenotype | Adenylosuccinase deficiency |
|---|---|
| Reference transcript | NM_000026.2 |
| DNA Change | c.1312T>C |
| A.A. Change | p.Ser438Pro |
| Exon/Intron | exon 12 |
| Mutation Type | substitution |
| Reference | Stone RL, Aimi J, Barshop BA, Jaeken J, Van den Berghe G, Zalkin H, Dixon JE.A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nat Genet. 1992 Apr;1(1):59-63. |