Over half of the mutations of " MUT " are missense mutations while nonsense mutations comprise a significant remaining fraction ( approximately 14 %)
32.
The final known GEFS + type 3 mutation is a nonsense mutation, Q351X, located in the intracellular region linking the third and fourth membrane spanning segments.
33.
Mutations in the CASQ2 gene have been classified into 12 CPVT associated mutations : 4 are nonsense mutations causing shortening of proteins, and 8 are missense mutations.
34.
Would it be consitered a nonsense mutation, Frameshift mutation or a missense mutation ? Preceding talk ) 16 : 25, 21 February 2011 ( UTC)
35.
Nonsense mutations in FASTKD2 produce a truncated protein that cuts off the RAP domain and part of the FAST domains, leading to dampened sensitivity to apoptotic stimuli.
36.
These animals are believed to manifest a new form of dominant white, a result of a nonsense mutation in DNA tracing to a single stallion foaled in 1996.
37.
This is a nonsense mutation, thus patients that are heterozygous for the allele but not affected ) frequency of 1.09 % for Caucasians of European heritage.
38.
According to a study published in 2005, no HERVs capable of replication had been identified; all appeared to be defective, containing major deletions or nonsense mutations.
39.
This revealed a homozygous nonsense mutation in the EDNRB gene meaning that ABCD syndrome was not a separate entity but rather the same as Shah-Waardenburg syndrome.
40.
There are more than 40 known mutations associated with TMAU . Loss-of-function mutations, nonsense mutations, and missense mutations are three of the most common.