Cloned (Comment) | Organism |
---|---|
gene HPRT1 | Homo sapiens |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
Japanese population | - |
Synonyms | Comment | Organism |
---|---|---|
HPRT | - |
Homo sapiens |
hypoxanthine guanine phosphoribosyltransferase | - |
Homo sapiens |