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Fig. 2 | BMC Medical Genetics

Fig. 2

From: A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report

Fig. 2

Functional analysis of the MYO15A mutant protein. a Schematic representation of MYO15A protein domain structure. A motor domain, three IQ motifs, two MyTH4 domains, two FERM domains, a SH3 domain, and a PDZ domain are depicted. b Multiple sequence alignment showed that R2298 and p.F3420del are positioned in a highly conserved region. Changes in amino acids are highlighted in the red boxes. c Molecular modeling revealed that the p.R2298* and p.F3420del mutants affect the normal protein structure of MYO15A

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