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. 2019 Jun 6;5(4):e343.
doi: 10.1212/NXG.0000000000000343. eCollection 2019 Aug.

Missense mutations in DYT-TOR1A dystonia

Zafar Iqbal  1 , Jeanette Koht  1 , Lasse Pihlstrøm  1 , Sandra P Henriksen  1 , Chiara Cappelletti  1 , Michael Bjørn Russel  1 , Osmar Norberto de Souza  1 , Inger Marie Skogseid  1 , Mathias Toft  1
Affiliations

Missense mutations in DYT-TOR1A dystonia

Zafar Iqbal et al. Neurol Genet. .

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Figures

Figure
Figure. Pedigrees of patient 1 and 2, partial Sanger chromatograms, amino acid conservation, and homology modeling
(A) Pedigree structure of the family of patient 1 (IV-1) with the c.934A>G (M) mutation in TOR1A, demonstrating segregation of the mutation. The proband is indicated by the sign of arrow. (B) Partial chromatogram indicating the c.934A>G mutation in TOR1A in patient 1. (C) Evolutionary conservation of amino acid at position 312, revealing high conservation down to zebrafish. (D) Homology model of the human torsinA p.R312G mutant. The α-helices and β-sheet of the AAA+ domain are colored in blue and purple, respectively. The C-terminal domain is colored in light blue. The ATP molecule and G312 are represented as sticks and colored by CPK. The mutation region is highlighted at the top right of this figure. Image generated with PyMOL (pymol.org/2/). (E) Pedigree structure of the family of patient 2 (II-1) with the c.863G>A (M) mutation in TOR1A. The proband is indicated by the sign of arrow. Three siblings are indicated by diamond (undisclosed sex) symbols. The siblings have not been tested for the mutation. (F) Partial chromatogram indicating the c.863G>A mutation in TOR1A in patient 2. ATP = adenosine triphosphate.
See this image and copyright information in PMC

References

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