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. 2020 Aug 3;29(18):2989–3002. doi: 10.1093/hmg/ddaa166

Figure 1.

Figure 1

(A) Schematic representation of the SLC38A8 protein with 11 transmembrane domains and location of amino acid changes in relation to the protein domains. Mutations in italics and with a solid black outline are ones reported in this study. Transmembrane domain 6 has recurrent missense mutations. c.995dupG: p.(W333Mfs*35) was a recurrent frameshift mutation reported in this study that was observed in three separate Korean families. Similarly, p.I32S is a recurrent mutation (reported in six separate families) observed in both Indian and Karaite Jewish ethnicities.