Twenty-one of the 22 mutated DNAs characterised were null mutations since these mutations cause a frameshift or a nonsense mutation.
Altogether, these observations indicate that MYH3 mutations cause a spectrum of diseases including DA, MPS and SCT.
One or possibly both its mutations cause a switch into an intertwined dimer, in which the molecular partners exchange nearly half of their fold.
Several mutations cause a substrate specificity shift from the preferred substrate of the enzyme, glutaryl-7-ACA, towards the desired substrate, adipyl-7-ADCA.
Wooderchak-Donahue WL, McDonald J, O'Fallon B, Upton PD, Li W, Roman BL, et al. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.
In addition, rare, dominant SETX mutations cause a juvenile-onset form of Amyotrophic Lateral Sclerosis (ALS), known as ALS4.
These point mutations cause a single amino acid substitution in the G helix, and result in a thalassemic and/or hemolytic phenotype.
RGA is a potential substrate of SLY1, because sly1 mutations cause a significant increase in RGA protein accumulation even after GA treatment.
Nonsense mutations cause a complete absence of pain, whereas activating mutations cause severe episodic pain in paroxysmal extreme pain disorder and primary erythermalgia.
When mutations cause a high population of ON or OFF states, or lead to an irreversible change in active site shape and dynamics, the allosteric diseases occur [13].
Genetic mutations cause a thickening of the wall of the heart, reducing its capacity to deal with accelerated heartbeats.
