Skip to main content
Fig. 7 | Acta Neuropathologica Communications

Fig. 7

From: Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype

Fig. 7

a Relative expression of MyHC-IIA protein in patient and age-matched control muscle tissue by Western blotting, showing marked reduction in MyHC-IIA in the patient. b Protein structure modeling displays the hydrophobic cavity region within the relay loop domain. In the wildtype protein, the phenylalanine at position 516 is in direct contact with an isoleucine at position 710. This interaction contributes to compaction of the hydrophobic region. The introduction of a valine at position 516 disrupts the central hydrophobicity of the domain and widens the cavity in relationship to the adjacent isoleucine. The 3D structures of wildtype and p.Phe516Val MyHC-IIA were modeled by homology using SWISS-MODEL [34] with the 2.3 Å resolution X-ray structure of Bos taurus cardiac myosin (Protein Data Bank entry 6FSA) [21] as template

Back to article page