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Fig. 4 | BMC Medical Genetics

Fig. 4

From: Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy

Fig. 4

Gene identification in TIMM8A of Family 1. a General structure of TIMM8A protein showing the positions of variations identified in MTS patients. Red colour presents missense variation, yellow indicates nonsense variation, and green indicates frameshift. b Wild-type and mutated amino acid sequences indicating the amino acid changes after variation p.L78Sfs21, and protein alignment showing conservation from amino acids position 78 to 97 across five species. c Sequencing chromatograms of TIMM8a showing the insertion in affected individuals (lower panel) compared with that of normal controls (upper panel). The inserted nucleotides are marked by red frames. d Three-dimensional structure of TIMM8A wild-type created by SWISS-MODEL. Mutated amino acids are coloured in yellow

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BMC Medical Genetics

ISSN: 1471-2350

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