Table 7.
List of common THR-like receptors LBD mutations associated with diseases in Humans at an alignment position.
| Receptor | Mutation | Classification | Alignment position | Disease-Associated |
|---|---|---|---|---|
| RARβ | R394C | Function | 523 | in MCOPS12; increased transcriptional response to retinoic acid ligands |
| RARβ | R394S | Function | 523 | in MCOPS12; increases transcriptional response to retinoic acid |
| THRβ | R429Q/W | Fold | 506 | in PRTH |
| VDR | R391C | Fold | 506 | in VDDR2A |
| THRβ | L346F | Fold/Function | 363 | in GRTHD |
| VDR | H305Q | Fold/Function | 363 | in VDDR2A; loss of calcitriol receptor activity; no effect on interaction with RXRA; changed interaction with NCOR1; loss of interaction with NCOA1; no effect on sequence-specific DNA binding. |
| PPARγ | F388L | Fold/Function | 363 | in FPLD3 |
| THRβ | G345R/V/S | Fold | 361 | in GRTHD |
| RARβ | G303A | Fold | 361 | in MCOPS12; Increased transcriptional response to retinoic acid ligands |
| THRα | A263S | Function | 258 | in CHNG6; no effect on T3 binding; no effect on thyroid hormone-dependent transcriptional activation |
| THRβ | A317T/S | Function | 258 | in GRTHD; impairs hormone binding |
| THRβ | R316H/C | Fold | 257 | in PRTH; impairs hormone binding |
| VDR | R274L/H | Fold | 257 | in VDDR2A; loss of calcitriol receptor activity; decreased affinity for calcitriol by a factor of 1000; no effect on interaction with RXRA; changed interaction with NCOR1; loss of interaction with NCOA1; no effect on sequence-specific DNA binding. |