C458fs/H323R |
naturally occuring mutation involved in biotinidase deficiency, no phenotype |
Homo sapiens |
D228G/D444H |
naturally occuring mutation involved in biotinidase deficiency, no phenotype |
Homo sapiens |
D444H |
naturally occuring mutation involved in biotinidase deficiency, the mutant enzyme shows 50% reduced activity compaerd to the wild-type enzyme, with phenotype |
Homo sapiens |
M86R/Q456H |
naturally occuring mutation involved in biotinidase deficiency, no phenotype |
Homo sapiens |
N300H/D444H |
naturally occuring mutation involved in biotinidase deficiency, no phenotype |
Homo sapiens |
R209H |
naturally occuring mutation involved in biotinidase deficiency, no phenotype |
Homo sapiens |
R209H/Q456H |
naturally occuring mutation involved in biotinidase deficiency, no phenotype |
Homo sapiens |
T152R/D444H |
naturally occuring mutation involved in biotinidase deficiency, no phenotype |
Homo sapiens |
T234I |
naturally occuring mutation involved in biotinidase deficiency, no phenotype |
Homo sapiens |
T234I/D444H |
naturally occuring mutation involved in biotinidase deficiency, no phenotype |
Homo sapiens |