Literature summary for 2.4.2.8 extracted from

Yamada, Y.; Nomura, N.; Yamada, K.; Wakamatsu, N.; Kaneko, K.; Fujimori, S.
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations (2008), Nucleosides Nucleotides Nucleic Acids, 27, 570-574.

Cloned(Commentary)

Cloned (Comment)	Organism
gene HPRT1	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A192V	naturally occuring mutation of HPRT1 gene, causes HPRT-related hyperuricemia	Homo sapiens
A64P	naturally occuring mutation of HPRT1 gene, causes the Lesch-Nyhan syndrome	Homo sapiens
C23F	naturally occuring mutation of HPRT1 gene, causes HPRT-related hyperuricemia	Homo sapiens
D185G	naturally occuring mutation of HPRT1 gene, causes HPRT-related hyperuricemia	Homo sapiens
D44V	naturally occuring mutation of HPRT1 gene, causes the Lesch-Nyhan syndrome	Homo sapiens
G140D	naturally occuring mutation of HPRT1 gene, causes the Lesch-Nyhan syndrome	Homo sapiens
G70E	naturally occuring mutation of HPRT1 gene, causes the Lesch-Nyhan syndrome	Homo sapiens
G70R	naturally occuring mutation of HPRT1 gene, causes the Lesch-Nyhan syndrome	Homo sapiens
H204X	naturally occuring mutation of HPRT1 gene, causes the Lesch-Nyhan syndrome	Homo sapiens
H60R	naturally occuring mutation of HPRT1 gene, causes no altered phenotype compared to the wild-type enzyme	Homo sapiens
I9S	naturally occuring mutation of HPRT1 gene, causes the Lesch-Nyhan syndrome	Homo sapiens
K159E	naturally occuring mutation of HPRT1 gene, causes HPRT-related hyperuricemia	Homo sapiens
L147P	naturally occuring mutation of HPRT1 gene, causes HPRT-related hyperuricemia	Homo sapiens
L65P	naturally occuring mutation of HPRT1 gene, causes the Lesch-Nyhan syndrome	Homo sapiens
L78Q	naturally occuring mutation of HPRT1 gene, causes the Lesch-Nyhan syndrome	Homo sapiens
M54L	naturally occuring mutation of HPRT1 gene, causes the Lesch-Nyhan syndrome	Homo sapiens
additional information	genotyping for mutations in the HPRT gene in healthy individuals and Lesch-Nyhan syndrome patients in Japanese population, diverse deletion mutations, detailed overview	Homo sapiens
P24R	naturally occuring mutation of HPRT1 gene, causes the Lesch-Nyhan syndrome	Homo sapiens
P25T	naturally occuring mutation of HPRT1 gene, causes HPRT-related hyperuricemia	Homo sapiens
Q144X	naturally occuring nonsense mutation of HPRT1 gene, exchange of 430C-T, causes the Lesch-Nyhan syndrome	Homo sapiens
R51X	naturally occuring mutation of HPRT1 gene, causes the Lesch-Nyhan syndrome	Homo sapiens
S162R	naturally occuring mutation of HPRT1 gene, causes the Lesch-Nyhan syndrome	Homo sapiens
T124P	naturally occuring mutation of HPRT1 gene, causes HPRT-related hyperuricemia	Homo sapiens
T139P	naturally occuring mutation of HPRT1 gene, causes the Lesch-Nyhan syndrome	Homo sapiens
V158G	naturally occuring mutation of HPRT1 gene, causes HPRT-related hyperuricemia	Homo sapiens
V188A	naturally occuring mutation of HPRT1 gene, causes HPRT-related hyperuricemia	Homo sapiens
Y195C	naturally occuring mutation of HPRT1 gene, causes HPRT-related hyperuricemia	Homo sapiens
Y72C	naturally occuring mutation of HPRT1 gene, causes HPRT-related hyperuricemia	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Japanese population	-

Synonyms

Synonyms	Comment	Organism
HPRT	-	Homo sapiens
hypoxanthine guanine phosphoribosyltransferase	-	Homo sapiens