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Fig. 5 | BMC Medical Genetics

Fig. 5

From: Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF

Fig. 5

Protein structure prediction of the novel MITF variant (p.P338L). In silico modeling (a) the effect of the MITF mutation using the DUET software shows a general destabilization of the structure (b). Wild-type and mutant residues are colored in light-green and are also represented as sticks alongside with the surrounding residues which are involved on any type of interactions (a). The magnitude of the fluctuation is represented by thin to thick tube colored blue (low), white (moderate) and red (high) (b)

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BMC Medical Genetics

ISSN: 1471-2350

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