We suspect that the N159V mutation causes a relatively large structural perturbation in the substrate binding pockets.
In Marfan syndrome a genetic mutation causes a defect in the production of fibrillin, a protein found in connective tissue.
Among them, one mutation causes a 13 bp deletion leading to a frame shifting of the coding sequence and appearance of a premature stop codon (Fig. 4C).
Coexpression of T122K with wildtype AGA results in processing of the precursor into subunits, implicating that the mutation causes a local misfolding that prevents the precursor from becoming processed.
By matching these two, researchers and doctors should be able to start understanding why a particular mutation causes a disease, which will help with the development of appropriate therapies.
This mutation causes a small, nonfunctional form of the protein chorein to be produced.
The mutation causes a deformation in collagen's triple helix structure, which if not naturally destroyed, leads to abnormal and weakened bone tissue.
CLN6 mutation causes a non-classical, hence 'variant', late-infantile NCL (vLINCL) [28], [29].
The mutation causes a frame shift and results in a premature stop codon.
In summary, the sar1 mutation causes a weak COPII-deficient phenotype.
Using our OCT instrument we examined whether this mutation causes a heart defect at an earlier developmental stage.
