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. 2014 Feb 19;22(11):1290–1297. doi: 10.1038/ejhg.2014.21

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
a

Referenced sequence accession numbers are given in Supplementary Information.

b

The consequences of amino-acid changes are predicted by PolyPhen2.

c

The Xenopus tropicalis Unc45b dicky ticker mutant.

d

The zebrafish steif unc45b mutation.