Skip to main content
Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

Fig. 4

Intramolecular interactions involving p.Glu500, as predicted by AlphaFold. Close-up on the alpha-helix of the relay loop. p.Glu500 (colored in pink) is situated close to one end of the helix and is expected to engage in electrostatic interactions (dashed blue lines) with Lysine503 and Lysine762. Deletion of p.Glu500 may abolish these interactions and dislocate the positively charged amino group of Lysine503

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172