"There was almost no information about how many mutations were there, how many deletions, translocations, et cetera," he says.
Like most genetic disorders, there is a continuous spectrum of phenotype from the very severe to the most mildly affected; many mutations are responsible for these phenotypic differences [2].
It is known that many mutations are neutral, or nearly so, having very slight effects on fitness (Futuyma 1998), and therefore these changes of birds' morphology and flight distance through a single base substitution were larger than those in an actual organism.
Although it is known that many mutations are neutral, or almost neutral, with a very small effect on fitness (Futuyma 2009), in this teaching resource, we only considered influential genes (e.g., the HOX gene) affecting body plans of the embryo.
Allelic heterogeneity is a characteristic of PYGM genotypes in McArdle patients, as many mutations are only found in a single patient or in the members of the same family.
In our study, many mutations were missense mutations; therefore, we chose to address missense mutations.
Notably, many mutations are novel (13 of the 30 BRCA1 mutations and 24 of the 44 BRCA2).
Many mutations were rare or unique compared with the other genomes investigated.
Many mutations are conditionally neutral: important under some conditions, invisible at other times.
Furthermore, many mutations were located in the previously described repeat motif, which may be of primary importance for virulence.
