31. These genotype phenotype correlations suggest that missense mutations of pVHL lead to a'gain of function'protein. 32. The second most frequent mutation was the missense mutation N457Y which was seen in 13 of the 110 patients. 33. It has been suggested that missense mutations in the DHDDS gene are responsible for certain variants of retinitis pigmentosa. 34. The geneticists examined how a missense mutation would affect the function of the DNA by looking at DNA models. 35. Missense mutations in the " dnaQ " gene lead to the induction of the SOS DNA repair mechanism.36. Patients with missense mutations tend to have less severe symptoms, pachygyria, and rare cases of subcortical band heterotopia. 37. There are numerous mutations that lead to hexosaminidase A deficiency including gene deletions, nonsense mutations, and missense mutations . 38. These patients show a higher variability in outcomes with a number of patients with SUCLA2 missense mutation surviving into adulthood. 39. Mice have also been created that are homozygous for a missense mutation in " Hfe " ( C282Y ). 40. Most type II patients show missense mutations in D-BP hydratase unit as well as some in-frame deletions.
