Based on Multiple Alignments of Complete Sequences (MACS) 32 and 3D structures available in the SM2PH database, 33 MSV3d annotates each mutation with various parameters describing the physico-chemical changes induced by the amino acid modification, as well as the conservation of the mutated residue and its position relative to functional features in the available or predicted 3D model.
13 Several other gene mutations associated with various autoinflammatory conditions have been identified since then.
In the absence of crystal available for the full-length thyrotropin receptor, knowledge of its structure and functioning has benefitted from the identification and characterization of mutations in patients with various thyroid dysfunctions.
It is well established that GRN gene mutations are associated with various kinds of neurological degenerative diseases, such as frontotemporal lobar dementia (FTLD), Parkinson's disease, Alzheimer's disease, multiple sclerosis, and amyotrophic lateral sclerosis (Baker and Manuelidis, 2003; Lopez de Munain et al., 2008; Malaspina et al., 2001; Vercellino et al., 2011).
Several retrospective studies of affected mutation carriers identified by familial cancer risk clinics failed to demonstrate any differences in survival when women with mutations were compared with various control groups (for reviews [ 19, 20]).
- Pericentrin (PCNT) mutations are associated with various diseases, most prominent the Majewski/microcephalic osteodysplastic primordial dwarfism type II (MOPD II), a rare human autosomal recessive genetic disorder.
In fact, mutation frequencies obtained with various concentrations of the tested samples do not change significantly when compared to spontaneous mutation frequencies.
Different types of auto-ignition and pressure mutation are identified with various initial temperatures.
Mutations in K-Ras, B-Raf and PIK3CA were identified by both dideoxy and quantitative pyrosequencing-based methods in a cohort of unselected colorectal tumours (n=102), and pyrosequencing-based mutation calls correlated with various clinico-pathological parameters.
The absence of complete segregation in one family with a history of colon cancer and a second family with breast cancer (in addition to other tumor types), and the low frequency of mutation in individuals with various tumor types, do not support the idea of a highly penetrant germ line variant, but the modifying effect on tumor pathogenesis may be of relevance.
