Literature summary for 2.6.1.44 extracted from

Coulter-Mackie, M.B.; Lian, Q.; Applegarth, D.; Toone, J.
The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1 (2005), Mol. Genet. Metab., 86, 172-178.

Search for more literature for 2.6.1.44

Protein Variants

Protein Variants	Comment	Organism
A280V	natural mutant from patient with primary hyperoxaluria type 1, 92% of normal enzyme activity	Homo sapiens
G161R	natural mutant from patient with primary hyperoxaluria type 1, 6.2% of normal enzyme activity	Homo sapiens
I279T	natural mutant from patient with primary hyperoxaluria type 1, 98% of normal enzyme activity	Homo sapiens
additional information	analysis of additional mutations	Homo sapiens
S218L	natural mutant from patient with primary hyperoxaluria type 1, 10% of normal enzyme activity	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P21549	patients with primary hyperoxaluria type 1	-

Source Tissue

Source Tissue	Comment	Organism	Textmining

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Release 2023.1 (January 2023)