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. 2016 May;2(3):a000844. doi: 10.1101/mcs.a000844

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© 2016 Yu et al.; Published by Cold Spring Harbor Laboratory Press

This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License, which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.

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Figure 4. — TMEM87B variants in the patient. (A) Partial chromatograms showing Sanger sequencing results of TMEM87B in the patient and his parents. The patient has a paternally inherited, hemizygous missense variant c.1366A>G (p.Asn456Asp). (B) Comparative analysis of TMEM87B from multiple species demonstrates that Asn456 (highlighted in red) is evolutionarily conserved. Protein sequences were obtained from the National Center for Biotechnology Information (NCBI) Protein database. (C) (Top) The 19 coding exons of TMEM87B are shown as gray boxes. (Bottom) The protein domains of TMEM87B, including signal peptide (SP) and six transmembrane domains (TMs) (annotated by Universal Protein Resource, UniProt), are shown. The location of the variant identified in the patients is indicated by arrows.