All the mutations were situated in the seventh transmembrane domain of the TSH receptor (from codon 619 to codon 633).
Probes for ASH are usually designed so that the variant base/point mutation is situated centrally, because centrally placed mismatches have a higher destabilizing effect on the duplex than mismatches at the ends, and therefore give a better discrimination [1] [5].
The R629H mutation was situated outside the RBD.
The p. Gly286Val mutation is situated in the direct proximity of the fourth transmembrane domain.
While amino acid 90 falls within the expected attachment region in this loop, the K61R mutation is situated along the exposed flank of the VNAR, apparently outside the antigen-binding paratope.
The protein-truncating mutations identified are situated between nucleotides 1231 and 9253, predominantly within exons 10 and 11 but not restricted to any specific domain.
In contrast, mutations associated with Laing distal myopathy that are situated at distance from the assembly competence domain might cause other effects on the thick filament structure and function leading to different pathology.
These two proteins are situated in the same genomic region, indicating a common chromosomal origin and subsequent mutations during the evolution of the two strains.
Other Gordon's syndrome mutations in KLHL3, including Q309R and N529K, are not involved in direct contact between the two proteins, but are situated within close proximity to the peptide-binding site.
Testes are situated in the trunk.
