Additional file 7: Figure S6. of MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

  • C Fiorillo (Contributor)
  • G Astrea (Contributor)
  • M Savarese (Contributor)
  • D Cassandrini (Contributor)
  • G. Brisca (Contributor)
  • F. Trucco (Contributor)
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  • A. D’Amico (Contributor)
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  • Marika Pane (Contributor)
  • M Fanin (Contributor)
  • L Bello (Contributor)
  • P. Broda (Contributor)
  • O Musumeci (Contributor)
  • C Rodolico (Contributor)
  • S Messina (Contributor)
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  • S Gibertini (Contributor)
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  • A Toscano (Contributor)
  • E Pegoraro (Contributor)
  • Eugenio Maria Mercuri (Contributor)
  • E Bertini (Contributor)
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  • V. Nigro (Contributor)
  • C. Minetti (Contributor)
  • F. M. Santorelli (Contributor)
  • C Bruno (Contributor)

Dataset

Description

COILS prediction of the effect of mutations in the LMM region on the probability of the myosin tails forming a coiled coil. COILS analysis of residues 1193-1805, using a MTIDK matrix and scanning windows of 14 (green line), 21 (blu line) and 28 (red line) amino acids, shows that all the 4 novel distal-myopathy mutations (p.Ser1435Pro, p.Ala1439Pro, p.Ala1603Pro and Glu1619Lys) impact the ability of the myosin tail to form a coiled coil (or hamper a coiled-coil conformation). Arrow indicates the position of the mutated amino acids. (JPG 183Â kb)
Dati resi disponibili2016
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