Table 2.
Point mutations in radial spoke head proteins that cause PCD
| H. Sapiens RSP | Mutation | C. reinhardtii ortholog | Corresponding mutation in C. reinhardtii | Apparent denaturation temperature* | References |
|---|---|---|---|---|---|
| Wild-type | 43±0.5 | ||||
| RSPH4A | Ala369Pro | RSP4 | Phe170Pro | 32±1 | 12 |
| RSPH4A | Gly464Glu | RSP4 | Gly251Glu | 35±1 | 12 |
| RSPH9 | In frame deletion of Lys268 | RSP9 | In frame deletion of Arg261 | 37±0.5 | 12, 13, 14 |
| RSPH9 | His251Arg | RSP9 | Tyr244Arg | 41±0.5 | 12 |
| RSPH1 | Gly103Asp | RSP1 | Gly636Asp | 39±0.5 | 14 |
*
Average of three repeats. Error is standard deviation of the mean. See Fig. 3e for representative melting curves.