A104V |
a naturally occuring mutation, 60.6% activity compared to the wild-type enzyme |
Homo sapiens |
A66V |
a naturally occuring mutation, 95.6% activity compared to the wild-type enzyme |
Homo sapiens |
A69T |
a naturally occuring mutation, 24.4% activity compared to the wild-type enzyme |
Homo sapiens |
C73R |
a frequent, naturally occuring mutation of a residue of the stabilizing helical region, 14.5% activity compared to the wild-type enzyme |
Homo sapiens |
E81D |
a naturally occuring mutation, unaltered activity compared to the wild-type enzyme |
Homo sapiens |
G188R |
a naturally occuring mutation, 41.4% activity compared to the wild-type enzyme |
Homo sapiens |
G188W |
a naturally occuring mutation, 31.6% activity compared to the wild-type enzyme |
Homo sapiens |
G225S |
a naturally occuring mutation, 32.4% activity compared to the wild-type enzyme |
Homo sapiens |
G236V |
a naturally occuring mutation, 34.0% activity compared to the wild-type enzyme |
Homo sapiens |
H173Y |
a naturally occuring mutation, 72.6% activity compared to the wild-type enzyme |
Homo sapiens |
I129T |
a naturally occuring mutation, 20.0% activity compared to the wild-type enzyme |
Homo sapiens |
I219S |
a naturally occuring mutation, 85.0% activity compared to the wild-type enzyme |
Homo sapiens |
L237P |
a naturally occuring mutation, 57.9% activity compared to the wild-type enzyme |
Homo sapiens |
L4F |
a naturally occuring mutation, 20.2% activity compared to the wild-type enzyme |
Homo sapiens |
additional information |
changes in the unfolding rate, relative to wild type, overview. Cloning, expression, and analysis of 25 missense mutants from congenital erythropoietic porphyria, CEP, patients, genotyping, overview |
Homo sapiens |
P248Q |
a naturally occuring mutation, 29.2% activity compared to the wild-type enzyme |
Homo sapiens |
P53L |
a naturally occuring mutation, inactive mutant, no purification of the recombinant mutant |
Homo sapiens |
Q187P |
a naturally occuring mutation, 15.0% activity compared to the wild-type enzyme |
Homo sapiens |
S212P |
a naturally occuring mutation, 20.0% activity compared to the wild-type enzyme |
Homo sapiens |
S47P |
a naturally occuring mutation, unaltered activity compared to the wild-type enzyme |
Homo sapiens |
T228M |
a naturally occuring mutation, 97.5% activity compared to the wild-type enzyme |
Homo sapiens |
T62A |
a naturally occuring mutation, 1.2% activity compared to the wild-type enzyme |
Homo sapiens |
V3F |
a naturally occuring mutation, 19.3% activity compared to the wild-type enzyme |
Homo sapiens |
V82F |
a naturally occuring mutation, 93.8% activity compared to the wild-type enzyme |
Homo sapiens |
V99A |
a naturally occuring mutation, 88.2% activity compared to the wild-type enzyme |
Homo sapiens |
Y19C |
a naturally occuring mutation, 13.1% activity compared to the wild-type enzyme |
Homo sapiens |