Table 1. Clustered mutations in the UCS domain of the UNC45B proteins.
| Species | Genea | Nucleotide change | Amino-acid change | Type of mutation | Inheritance | Consequenceb | Phenotype | Reference |
|---|---|---|---|---|---|---|---|---|
| X. tropicalis | Unc45b | c.2335T>C | p.Cys779Argc | Missense | Recessive | Damaging/lethal | Muscle | 2 |
| Zebrafish | unc45b | c.2364C>A | p.Cys788*,d | Nonsense | Recessive | Damaging/lethal | Muscle | 10 |
| C. elegans | unc-45 | c.2341G>A | p.Glu781Lys | Missense | Recessive | Tolerant/paralyses | Muscle (ts) | 30 |
| C. elegans | unc-45 | c.2464C>T | p.Leu822Phe | Missense | Recessive | Tolerant/paralyses | Muscle (ts) | 30 |
| Human | UNC45B | c.2413C>T | p.Arg805Trp | Missense | Dominant | Damaging | Cataract/lens | Present study |
Referenced sequence accession numbers are given in Supplementary Information.
The consequences of amino-acid changes are predicted by PolyPhen2.
The Xenopus tropicalis Unc45b dicky ticker mutant.
The zebrafish steif unc45b mutation.