Literature summary for 3.5.4.10 extracted from

Marie, S.; Heron, B.; Bitoun, P.; Timmerman, T.; Van Den Berghe, G.; Vincent, M.F.
AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC (2004), Am. J. Hum. Genet., 74, 1276-1281.

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Protein Variants

Protein Variants	Comment	Organism
K246R	natural mutation observed in female infant patient with lack in transformylase activity and about 40% residual enzymic activity, showing massive excretion of 5-amino-4-imidazolecarboxamide riboside, dysmorphic features, severe neurological defects, and congenital blindness. Recombinant protein with K426R mutation completely lacks AICAR transformylase activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P31939	bifunctional inosine monophosphate cyclohydrolase/AICAR transformylase. Female infant patient with lack in transformylase activity and about 40% residual enzymic activity, showing massive excretion of 5-amino-4-imidazolecarboxamide riboside, dysmorphic features, severe neurological defects, and congenital blindness	-

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Release 2023.1 (January 2023)