EC Number |
Protein Variants |
Reference |
---|
2.1.1.61 | A10S |
the mutation alters the structure and function of the enzyme, thereby causing mitochondrial dysfunction, and interacts with 12S rRNA 1555A->G mutation to cause deafness. The mutation causes marked decreases in 2-thiouridine modification of U34 of tRNALys (48% decrease), tRNAGlu (38% decrease) and tRNAGln (50% decrease). However, the mutation mildly increases the aminoacylated efficiency of tRNA |
757188 |
2.1.1.61 | A10S |
the mutation is associated with acute liver failure in infancy |
701608 |
2.1.1.61 | G14S |
the mutation is associated with acute liver failure in infancy |
701608 |
2.1.1.61 | G272D |
the mutation is associated with acute liver failure in infancy |
701608 |
2.1.1.61 | L233F/A10S |
the mutation is associated with acute liver failure in infancy |
701608 |
2.1.1.61 | M1K |
the mutation is associated with acute liver failure in infancy |
701608 |
2.1.1.61 | V279M |
the mutation is associated with acute liver failure in infancy |
701608 |
2.1.1.61 | Y77H |
the mutation is associated with acute liver failure in infancy |
701608 |