FIGURE

Fig. 2

ID

ZDB-FIG-250114-35

Publication

Buonfiglio et al., 2024 - In silico and in vivo analyses of a novel variant in MYO6 identified in a family with postlingual non-syndromic hearing loss from Argentina

Other Figures

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Fig. 2

(A) Representative alignment across six MYO6 orthologous chordate sequences, revealing a 100% sequence identity for the Arg925 residue. (B) Structural modeling analysis of the IQ domain (pink), the three-helix bundle (orange) and the SAH (grey). (C) Evaluation of patterns on the protein surface showing the change in the electrostatic charge (arrow). Details of the interactions of the p.Arg925 or Ser925 within the SAH domain. The distances between p.Arg925 and p.Glu921/p.Glu922 are indicated as sticks in surface residues. (D) Schematic representation of MYO6 with the motor domain, neck domain and tail region. Residue numbers correspond to human MYO6, Uniprot entry Q9UM54.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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