Technical Notes: SETH provides detailed information about the mutation, including a classification into several mutation types.
There are only a few reports on myotonia permanens associated with G1306E mutation, including a familial case with autosomal dominant inheritance [ 7].
It provides extensive information for each variant and mutation, including a description of the variant and associated pathology, hematology, electrophoretic mobility, methods of isolation, stability information, ethnic background, structure studies, functional studies, and references, but gives no details of gene frequencies or survey locations.
Due to the unexpected results in these two assays, further functional studies were carried out on this mutation, including an investigation of its ability to induce apoptosis in mammalian cells, to transrepress a target gene and to suppress colony growth.
With this tool, we had already shown the necessity of the eight conserved histidine residues for alkylglycerol mono-oxygenase activity [ 4], and we extend this analysis in the present study describing 26 further mutations, including a residue which, when mutated, attenuates tetrahydrobiopterin affinity to the enzyme 18-fold.
The notoriously irascible Getz fell out with Byrd over royalties and their partnership stalled, but the music stayed on a roll for a couple of years, passing through various mutations including a big band that mostly sounded unsuited to the idiom's delicacy, despite some haunting interplay between Getz and trombonist Bob Brookmeyer.
Blueprint Medicines, focused on drugs targeting other rare mutations, including a type of digestive-tract cancer, is up 150%.
The average individual carries numerous loss and gains of mutations, including a few lethals (Shendure and Akey 2015), and all of us are mutants in our own way (Kaiser 2014).
These phenotypic changes are associated with the accumulation of additional mutations including a P145L substitution mutation in sigH, a positive regulator of sporulation [63], [64] and an A13P mutation in scoC, a negative regulator of sporulation [65].
Furthermore, and in contrast to introduction of a glutamate at position 56 which is lethal [3], [33], all of the above single and double mutations – including a glutamate at position 57 – could support life, as we obtained viable mutant yeast clones with similar frequencies (Figure 2).
Sanger sequencing revealed four pathogenic germline mutations, including a novel splicing mutation (c.48+1G>A).
