Article
Functional significance of lysine 1423 of neurofibromin and characterization of a second site suppressor which rescues mutations at this residue and suppresses RAS2Val-19-activated phenotypes.
Molecular and cellular biology - 1 Jan 1994
Poullet P, Lin B, Esson K, Tamanoi F
Abstract excerpt
Lysine 1423 of neurofibromin (neurofibromatosis type I gene product [NF1]) plays a crucial role in the function of NF1. Mutations of this lysine were detected in samples from a neurofibromatosis patient as well as from cancer patients. To further understand the significance of this residue, we ha...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA Primers
- Fungal Proteins
- GTPase-Activating Proteins
- Genes, Neurofibromatosis 1
- Genes, Suppressor
- Genes, ras
- Humans
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Neurofibromin 1
- Phenotype