Literature summary for 4.3.2.2 extracted from

Stone, R.L.; Aimi, J.; Barshop, B.A.; Jaeken, J.; van den Berghe, G.; Zalkin, H.; Dixon, J.E.
A mutation in adenylosuccinate lyase associated with mental retardation and autistic features (1992), Nature Genet., 1, 59-63.

Protein Variants

Protein Variants	Comment	Organism
S413P	the mutation leads to structural instability of the mutant enzyme, this instability lowers the enzyme level in lymphocytes. The mutation segregates with mental retardation in the affected family	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)