Table 2.
1. Nonsynonymous changesa |
• Residue change affecting posttranslational modifications and altered receptor half-life and enhanced immune response. |
• Changes increasing peptide affinity for HLA binding, thus influencing antigen presentation. |
2. Spliced variants |
• Variants with intrinsic activity, for example, kinase. |
• Variants with structural impact on the immune response. |
3. Small RNAs |
• Regulating TSH receptor expression/life cycle. |
• Regulating immune reactivity to the TSHR. |
4. Linkage disequilibrium with another gene |
• Influence on genes of immune regulation leading to reduced immune tolerance. |
No consistent evidence has been found to date for any changes in TSHR residues associated with Graves' disease.