3.5.1.12: biotinidase

4% activity compared to the wild type enzyme

C160Y

impaired biotinidase activity (activity in cells: 14%, activity in medium: 0.3%) and undetectable amount of protein in intra and extracellular space. Variant identified among Brazilian individuals showing low activity of biotinidase in serum

C186Y/D444H

naturally occuring mutation involved in biotinidase deficiency

C418S/D444H

24% activity compared to the wild type enzyme

C458fs/H323R

naturally occuring mutation involved in biotinidase deficiency, no phenotype

D222N

variant shows normal activity

D228G/D444H

naturally occuring mutation involved in biotinidase deficiency, no phenotype

D444H

D444H/Q456H

naturally occuring mutation involved in biotinidase deficiency

D444H/T532M

naturally occuring mutation involved in biotinidase deficiency

E112K/Q456H

1% activity compared to the wild type enzyme

E112K/R538C

1% activity compared to the wild type enzyme

E218Q/L278V

1% activity compared to the wild type enzyme

E46X/D444H

20% activity compared to the wild type enzyme

G34D/G114V

naturally occuring mutation in a Spanish patient with enzyme deficiency

L215F/D444H

17% activity compared to the wild type enzyme

L278V/D444H

14-20% activity compared to the wild type enzyme

L40P

impaired biotinidase activity (activity in cells: 33%, activity in medium: 7%) and undetectable amount of protein in intra and extracellular space. Variant identified among Brazilian individuals showing low activity of biotinidase in serum

L446P

impaired biotinidase activity (activity in cells: 0%, activity in medium: 2%) and undetectable amount of protein in intra and extracellular space. Variant identified among Brazilian individuals showing low activity of biotinidase in serum

L71P

naturally occuring mutation, with additional frameshift mutation in this mutant, in an Indian patient with enzyme deficiency

M86R/Q456H

naturally occuring mutation involved in biotinidase deficiency, no phenotype

N195S/D444H

21% activity compared to the wild type enzyme

N300H/D444H

naturally occuring mutation involved in biotinidase deficiency, no phenotype

N489S

activity in medium is 43% compared to wild-type activity

P187S

naturally occuring mutation in an Austrian patient with enzyme deficiency

Q456H

2 entries

Q456H/D444H

19-29% activity compared to the wild type enzyme

Q456H/R538C

2% activity compared to the wild type enzyme

R157C/D444H

18-23% activity compared to the wild type enzyme

R157H/D444H

naturally occuring mutation involved in biotinidase deficiency

R209H

naturally occuring mutation involved in biotinidase deficiency, no phenotype

R209H/Q456H

naturally occuring mutation involved in biotinidase deficiency, no phenotype

R538C

2 entries

R538C/D444H

16-25% activity compared to the wild type enzyme

S311R

naturally occuring mutation in a Spanish patient with enzyme deficiency

T152P/D444H

20% activity compared to the wild type enzyme

T152R/D444H

naturally occuring mutation involved in biotinidase deficiency, no phenotype

T234I

naturally occuring mutation involved in biotinidase deficiency, no phenotype

T234I/D444H

naturally occuring mutation involved in biotinidase deficiency, no phenotype

V199M/R211C

8% activity compared to the wild type enzyme

V62M

1% activity compared to the wild type enzyme

Y425Ter

naturally occuring mutation, with additional frameshift mutation in this mutant, in several Austrian patients with enzyme deficiency