Literature summary for 2.4.2.7 extracted from

Taniguchi, A.; Tsuchida, S.; Kuno, S.; Mita, M.; Machida, T.; Ioritani, N.; Terai, C.; Yamanaka, H.; Kamatani, N.
Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis (2004), Nucleosides Nucleotides Nucleic Acids, 23, 1141-1145.

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Protein Variants

Protein Variants	Comment	Organism
G133D	mutation in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis, Japanese patient	Homo sapiens
R67Q	mutation in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis, Japanese patient	Homo sapiens
V84W	mutation in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis, Japanese patient	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Japanese patients with 2,8-dihydroxyadenine urolithiasis	-

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Release 2023.1 (January 2023)