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. Author manuscript; available in PMC: 2022 Nov 14.
Published in final edited form as: J Med Genet. 2020 May 21;58(4):237–246. doi: 10.1136/jmedgenet-2020-106849

Figure 3. Molecular analysis of variants in TTC5.

Figure 3.

A. Partial Sanger sequence traces for TTC5 exons 5, 6, 7, and 9, encompassing c.629A>G;p.(Tyr210Cys), c.1883C>T;p.(Arg395Ter), c.787C>T;p.(Arg263Ter), and c.692C>T;p.(Ala231Val) variants, respectively. Affected individuals are homozygous for the variant, while unaffected carriers are heterozygous.

B. TTC5, located on chromosome 14 on the minus strand has ten exons (shown by rectangles). Novel TTC5 variants occur at hg38 position 20298807 in exon 5 (family RDHM-05), 20296394 in exon 6 (family 6772), 20292003 in exon 7 (families 5543 and 5377), and 20292003 in exon 9 (family CW07).

C. TTC5 protein domain structure. TPR motif domains are shown in grey. Previously reported variants are annotated with black triangles and novel variants with red triangles. The cDNA and protein positions are shown. TPR; Tetratricopeptide repeat.

D. Clustal-Omega alignment of TTC5 protein orthologues in vertebrate species showing complete evolutionary conservation of p.Tyr210 and p.Ala231.

E. Quantitative RT-PCR for TTC5 from peripheral blood mononuclear cells isolated from an unaffected carrier or affected individual in family CW07 showing variant p.(Arg395Ter) decreases TTC5 expression.