In our experiments, the mutation A759G appears to be advantageous and selected for, as it becomes fixed in the PUUV master sequence in the recipient voles. As it was not feasible to sequence whole ...Novella IS,
Expression analysis revealed that this apparently silent mutation compromises correct premessenger RNA (mRNA) splicing, promoting skipping of the entire exon 7, with a consequent frameshift. In silico analysis of this mutation did not predict alterations in the canonical splice sequences, but rather ...
However, this approach did not have a formal estimate of the background synonymous mutation frequency. No approach to date has accounted for all three levels of patient-, gene- and disease-specific mutational heterogeneity that are known to lead to inaccurate results in non-synonymous cancer ...
The synonymous V107V mutation in factor IX is not so silent and may cause hemophilia B in patients. Blood. 2010;116:2197–2197. 161. Supek F, Miñana B, Valcárcel J, Gabaldón T, Lehner B. Synonymous mutations frequently act as driver mutations in human cancers. Cell. 2014;156:1324...
[21,163]. In addition, generation of robust prediction tools is highly dependent on the availability of disease-associated genetic data that can be used to train ML systems. Numerous data sets have been curated with information on disease-related variants, such as Human Gene mutation database (...
While the TTT mutation is silent, the TTG mutation changes the wildtype F to a variant L at this position. In line with the hypothesis that most extant TpC mutations will affect viral fitness, the silent mutation is seen in 4 times more samples than the non-synonymous mutation. Therefore,...
(Ina) two methods. When the transition/transversion bias at the mutation level is strong, the numbers of synonymous and nonsynonymous substitutions are estimated more accurately by the PBL and Ina methods than by the NG, MY and LWL methods. When the nucleotide-frequency bias is strong and ...
The synonymous V107V mutation in factor IX is not so silent and may cause hemophilia B in patients. Blood. 2010;116:2197–2197. 161. Supek F, Miñana B, Valcárcel J, Gabaldón T, Lehner B. Synonymous mutations frequently act as driver mutations in human cancers. Cell. 2014;156:1324...
[21,163]. In addition, generation of robust prediction tools is highly dependent on the availability of disease-associated genetic data that can be used to train ML systems. Numerous data sets have been curated with information on disease-related variants, such as Human Gene mutation database (...
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA. Am J Med Genet A 2004; 127A: 158 – 66. 21. Liu W, Quian C, Francke U. Silent mutation induces exon skip-ping of fi brilin-1 gene in ...