Article
Kinetic analysis of a mutant (His107-->Tyr) responsible for human carbonic anhydrase II deficiency syndrome.
The Journal of biological chemistry - 5 Mar 1993
Tu C, Couton J M, Van Heeke G, Richards N G, Silverman D N
Abstract excerpt
The replacement His107-->Tyr is a cause of carbonic anhydrase II deficiency syndrome in humans (Venta, P. J., Welty, R. J., Johnson, T. M., Sly, W. S., and Tashian, R. E. (1991) Am. J. Hum. Genet. 49, 1082-1090). We have prepared this mutant of human carbonic anhydrase II by site-directed mutagen...
Topics
- Animals
- Base Sequence
- Carbonic Anhydrases
- Catalysis
- Cattle
- Cloning, Molecular
- DNA
- Escherichia coli
- Histidine
- Humans
- Hydrogen-Ion Concentration
- Kinetics
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Protein Conformation
- Syndrome
- Tyrosine