Separation-of-function mutations leave the binding of TPX2 to γ-TuRC intact, whereas branching MT nucleation is abolished, suggesting that TPX2 may activate γ-TuRC to promote branching MT nucleation.
These mutations leave the phosphatase activity intact [ 115].
For the RNAi-resistant version of IFT27, a new version of the gene was chemically synthesized modifying the first 411 nucleotides in order to make synonymous mutations, leaving the amino acid sequence unchanged (GeneBank Accession Number KF147877).
These two conformational changes also control the cellular localization of Rab proteins (Stenmark, 2009) and as a consequence, mutations leaving the proteins in a GTP-locked or GDP-locked state affect the function and localization of this GTPases.
The extremely high number of HL-causing genes, as well as the low frequency of most known mutations, leave the vast majority of patients with no definitive genetic diagnosis, principally because the screening of all known deafness genes by traditional mutation analysis methods is unfeasible.
Moreover, the sn mutation leaves the fascin open reading frame intact, allowing small amounts of normal protein to be produced (Paterson and O'Hare, 1991; Cant et al., 1994).
Negative consequences of gate removal were also observed for the FabZ-β-hydroxyacyl-acyl carrier protein dehydratase (HpFabZ), in which the Y100A mutation leaves the active site completely exposed to the bulk solvent.
"There are no mutations left [from archaic Asians]." But because human genomes are a mosaic of genetic lineages, it is still possible that some of our nuclear DNA came from archaic humans who were not part of the recent migration out of Africa.
As seen for the majority of HCM causing mutations, especially for the regulatory troponin proteins [ 29, 30], the R21C mutation left shifted the Ca2+ sensitivity of force but only in the RV compared to RV-WT.
The m.14459G>A mutation was the only candidate mutation left after analysis of the non-haplogroup variants using allele frequencies and standard criteria.
