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 webcite) from Zebrafish to Human in the titin domain A150 containing Cys30071 and Gly30150 mutated in HMERF (indicated by arrows).

Toro et al. BMC Neurology 2013 13:29   doi:10.1186/1471-2377-13-29
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