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. 2021 Jun 23;22(13):6723. doi: 10.3390/ijms22136723

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© 2021 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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Mutational ratio in USH protein domains. Mutational ratio for the protein domains for the genes MYO7A, USH1C, CDH23, PCDH15, USH2A and ADGRV1, shown on the y-axis. Ratios are calculated counting the number of pathogenic variants of each type located in each domain and normalized with respect to the size of the specific domain. Abbreviations: Motor, motor domain; IQ, IQ calmodulin-binding motif; CC, coil-coiled domain; MyTH4; Myosin Tail Homology 4 domain; FERM, FERM domain (F for 4.1 protein, E for ezrin, R for radixin and M for moesin); SH3; Src Homology 3 domain; N, N-terminal domain; PDZ, PDZ domain; aa, amino acids; SP, signal peptide; PBM, PDZ binding domain; CD, cadherin domains; EC, extracellular domain; TM, transmembrane; LMN NT, laminin N-terminal domain; LMN EGF-Lam, laminin EGF-like domain; LMN G; laminin G domain; FN, fibronectin domain.