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Fig. 4 | BMC Medical Genetics

Fig. 4

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

Fig. 4

Structural Characterization of the P338 residue. The mouse bHLH amino acid sequence (a) used for depicting the crystal structure of MITF bound to DNA showing the position of the corresponding P338 residue (red circle and arrow) is highly identical to the human sequence (b). The position of the proline residue at position 338 (referred to as Pro 237) is to the outside of the interface of the dimerization interface between two molecules of the mouse MITF bHLH domain (c). (adapted from https://www.rcsb.org/structure/4ATI)

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