It is known that TRAPS-associated mutants have functional death domains and retain the ability to activate NF-κB [ 56- 59], but, as mentioned previously, mutant receptors do not seem to induce increased NF-κB transactivation in transfected cells.
Intriguingly, none of the three AIPC cell lines has functional p53 (PC-3 and CL1: p53 null; DU145: p53 mutant).
The RNAMute package allows a comprehensive categorization, given an RNA sequence that has functional relevance, by exploring the patterns of all single-point mutants.
"It has functional limitations.
Studies in mouse models that possess enteric ganglia throughout the length of the intestine (non-HSCR) have also found that certain genetic alterations affect neural crest lineage balance and interestingly many of these mutants also have functional gastrointestinal (GI) defects.
In addition, a triple site mutant C+DE was also tested, this mutant has only one functional site, the fourth site (Willox and Royle, 2012).
It is notable that previous attempts to express WT DAT using the AAV virus resulted in non-selective expression of N-terminal hemagglutinin tagged form of the transporter in mutant mice that have functional but cocaine-insensitive DAT, with minimal behavioral phenotypes38.
Moreover, this improvement required the presence of functional ASE neurons (che-1 mutants do not have functional ASE neurons [ Uchida et al., 2003]).
This likely functional redundancy could explain why the ΔlytM mutant has no obvious phenotype.
No tyrp1 mutant has been identified in teleosts until today, possibly due to a functional redundancy of tyrp1 duplicates.
