In addition, the HSF software predicted that the NM_000093.3_c.925-2A>G mutation can interfere with binding of several SR proteins, such as SC35, SRp40 and SF2/ASF, to SREs, which may cause malpositioning of the spliceosome.
These data represent the first direct evidence that a DNM2 mutation can interfere with tubulation and disrupt triadic function.
The results presented here indicate that this may not apply to other Rabs, since the same mutation can interfere with GEF stimulated GDP-release and hence Rab activation.
To test whether the tsc2 vu242 nonsense mutation can interfere with TORC1 signaling, we overexpressed full-length or truncated Tuberin by injecting synthetic wild-type tsc2 or tsc2 vu242 RNA, or an additional truncated-Tuberin-encoding RNA, into wild-type embryos at the one-cell stage.
Mutations can also interfere with mRNA synthesis, stability, localization, or splicing [Chen and Miller, 2008].
Mutation of TP53 can lead not only to inactivation of p53 function but many mutant p53 proteins can interfere with wild type p53 function in a dominant-negative manner in p53 wild type/mutant heterozygotes (reviewed in [ 41]).
The p53 mutations are dominant negative and can interfere with endogenous wild-type p53 function [ 48].
Mutations in the TUBB gene can interfere with drug binding and cause resistance to mt stabilizing drugs, including epothilones (Giannakakou et al, 1997; He et al, 2001; Berrieman et al, 2004; Wiesen et al, 2007; Mozzetti et al, 2008).
Some other cases include mutations leading to single amino acid substitutions that can interfere with the proper maturation and function of LPH [ 4, 5].
Also, somewhat perplexing is the reason why para bss1 phenotypes might be suppressed by gish mutations, how a loss of casein kinase function can interfere with voltage-gated Na+ gain-of-function.
