Literature summary for 4.3.2.2 extracted from

Jurecka, A.; Zikanova, M.; Tylki-Szymanska, A.; Krijt, J.; Bogdanska, A; Gradowska, W.; Mullerova, K.; Sykut-Cegielska, J.; Kmoch, S.; Pronicka, E.
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency (2008), Mol. Genet. Metab., 94, 435-442.

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Cloned(Commentary)

Cloned (Comment)	Organism
ADSL gene, genotyping in Polish patients with adenylosuccinate lyase deficiency compared to the wild-type, overview	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
D215H	naturally occuring mutation, two homozygous and two compound heterozygous mutant variants	Homo sapiens
D268H	naturally occuring mutation, two homozygous and two compound heterozygous mutant variants	Homo sapiens
I351T	naturally occuring mutation, two homozygous and two compound heterozygous mutant variants	Homo sapiens
additional information	genotype is related to severity of the mental retardation phenotype, overview	Homo sapiens
R426H	naturally occuring mutation, two homozygous and two compound heterozygous mutant variants	Homo sapiens
S23R	naturally occuring mutation, two homozygous and two compound heterozygous mutant variants	Homo sapiens
T242I	naturally occuring mutation, two homozygous and two compound heterozygous mutant variants	Homo sapiens
Y114H	naturally occuring mutation, two homozygous and two compound heterozygous mutant variants	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide	Homo sapiens	the 8th step in the purine nucleotide de novo pathway	5-aminoimidazole-4-carboxamide ribonucleotide + fumarate	-	?
succinyladenosine monophosphate	Homo sapiens	conversion of adenylosuccinate to adenylate in the purine nucleotide cycle	AMP + fumarate	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Polish patients with adenylosuccinate lyase deficiency	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide	i.e. SAICAR	Homo sapiens	5-aminoimidazole-4-carboxamide ribonucleotide + fumarate	i.e. AICAR	?
5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide	the 8th step in the purine nucleotide de novo pathway	Homo sapiens	5-aminoimidazole-4-carboxamide ribonucleotide + fumarate	-	?
succinyladenosine monophosphate	-	Homo sapiens	AMP + fumarate	-	?
succinyladenosine monophosphate	conversion of adenylosuccinate to adenylate in the purine nucleotide cycle	Homo sapiens	AMP + fumarate	-	?

Synonyms

Synonyms	Comment	Organism
ADSL	-	Homo sapiens

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Release 2023.1 (January 2023)