All HIF-2α mutations described to date are heterozygous and the majority are single missense mutations.
The mutations described to date for GD include both nonsense mutations as well as subtle missense changes that appear to result in decreased secretion of ADAMTSL2 [20].
The vast majority of mutations described to date are point mutations and small insertions and deletions.
Table 1 gives an overview of homozygous and compound heterozygous mutations described to date in the literature.
All the mutations described to date result in increased calcium influx and thus increased intracellular calcium levels.
From all mutations described to date, approximately 788 (46%) have been associated with this domain (see http://www.ucl.ac.uk/fh, http://www.umd.necker.fr).necker.fr
The majority of the natural hGR mutations described to date are associated with Chrousos syndrome, a rare, familial or sporadic genetic condition characterized by generalized, partial, target-tissue insensitivity to glucocorticoids.
Although further studies will be needed to fully elucidate the molecular functions of TUB, it is striking that the TUB variant reported here and all TULP1 mutations described to date, disrupt the C-terminal domain found in all TUB family members.
In the first simulation the wild-type IN was used, whereas in the second one the double mutation T66I/M154I, described to lead to drug resistance, was introduced in the protein.
List of genes in which mutations were described to affect the leptin-melanocortin signaling pathway [3, 6, 7, 9, 20, 36 46].
