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. Author manuscript; available in PMC: 2020 Sep 1.
Published in final edited form as: Hum Mutat. 2019 Aug 7;40(9):1507–1518. doi: 10.1002/humu.23846

Figure 5:

Figure 5:

A sidechain-sidechain hydrogen bond is disrupted by a GAAGAA variant. In the wildtype GAAGAA protein, the NH1 atom of the Arg464 sidechain forms a hydrogen bond with the OD2 atom of Asp501. The NP_000143.2:p.Arg464Ser variant results in the loss of the hydrogen bonding partner for Asp502 sidechain.