(A) Localization of 25 identified missense
point mutations affecting 19 residues in the schematic structure of JAK1 with its functional domains and (B) in the three - dimensional modeled structure of kinase and pseudokinase domain published by Flex9.
Not exact matches
Studying how the knockout
mutations affect those traits and health could
point to genes that are potentially safe and effective targets for
He
points out that often two different families carry the same
mutation, but only one family develops symptoms, suggesting that other inherited factors also
affect risk.
To see whether
point mutations, which
affect just one DNA base in mtDNA, are directly involved in aging, a team of researchers at the University of Washington in Seattle charted mtDNA
mutation frequency in normal mice and «mitochondrial mutator» mice.
We further show that the same Csm1
point -
mutations affect rDNA silencing, probably by disrupting binding to the rDNA - associated protein Tof2.
The tool help studying intronic and exonic
mutations affecting pre-mRNA splicing signals acceptor / donor splice sites as well as branch
points or auxiliary splicing signals such as Exonic Splicing Enhancers (ESE) and Exonic Splicing Silencers (ESS).