Prediction of pathogenic mutations in mitochondrially encoded human tRNAs.

Abstract excerpt

Some mutations in human mitochondrial tRNAs are severely pathogenic. The available computational methods have a poor record of predicting the impact of a tRNA mutation on the phenotype and fitness. Here patterns of evolution at tRNA sites that harbor pathogenic mutations and at sites that harbor phenotypically cryptic polymorphisms were compared. Mutations that are pathogenic to humans occupy more conservative...

Topics

• Base Sequence
• Humans
• Mitochondria
• Molecular Sequence Data
• Mutation
• RNA, Transfer