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Figure 7 | BMC Neurology

Figure 7

From: Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

Figure 7

Schematic representation of super-repeats 10 and 11 (SR-10 and SR-11) of the A-band and the kinase domain of titin. Fn3 domains are shown in red, Ig-like domains in white and the kinase domain in black. Super-repeat boundaries are indicated by dividing lines. TTN mutation p.Gly30150Asp identified in Family A and the p.Cys30071Arg identified in North European families [7, 8] have occurred in an FN3 domain of the 10th large super-repeat numbering A150 (according to [33]). The previously reported p.Arg32450Trp mutation [5] is located at the N-terminal helix (alphaR1) of the kinase domain. Bottom: Amino acid conservation (source: http://genome.ucsc.edu) from Zebrafish to Human in the titin domain A150 containing Cys30071 and Gly30150 mutated in HMERF (indicated by arrows).

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BMC Neurology

ISSN: 1471-2377

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