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Mutations affecting conserved DEAD-box residues had different effects on Vas localization.
Again, mutations affecting conserved DEAD-box helicase residues, and deletion of amino acids 655-661, strong strong effects (>85% decrease in the number of stage 8 egg chambers with a Grk crescent compared to vas +).
For most other mutations affecting conserved DEAD-box residues, nuage-associated eGFP-Vas was distributed in a far more punctate pattern than in wild-type or in all N-terminal deletions except for Δ3-200 Δ3-200re Fig. 4B with Fig. 4A).
Sequencing of the mutated sepF alleles revealed two different mutations affecting conserved residues: A98V and F124S.
Instead, many missense mutations affecting conserved residues in ND subunits are causative of human diseases, ranging from mono-symptomatic pathologies, such as Leber's hereditary optic neuropathy (LHON), to more severe and multi-systemic clinical phenotypes, such as mitochondrial encephalomyopathy, lactic acidosis and stroke-like syndrome (MELAS and Leighh syndrome.
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All the mutations affected conserved sites and were located in domains that are important for channel function.
The TS-EL mutations that affect conserved amino acids may be useful for engineering conditional mutations in other species (e.g., Schmidt et al. 2005).
Most of the MED mutations in MATN3 affect conserved residues in one of the six β-strands (βA-βF) that together comprise the β-sheet of the A-domain [ Jackson et al., 2004].
The JGCTs without duplications carried point mutations affecting highly conserved residues.
The two other probands, both from consanguineous families, harbour homozygous missense mutations affecting highly conserved residues within the homeobox domain of the protein (respectively p.R176Q and p.A152G).
Studies in pediatric high-grade astrocytomas (HGA) by our group and others have uncovered recurrent somatic mutations affecting highly conserved residues in histone 3 (H3) variants.
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