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. 2020 Sep 1;8(11):e1478. doi: 10.1002/mgg3.1478

FIGURE 2.

FIGURE 2

Multiple sequence alignment (MSA) and 3D structure of ARSA. (a) Multiple sequence alignment showing the sequence alignment of a specific amino acid, and its conservation in other ARSA orthologs (across different species). Nucleotide numbers are derived from cDNA ARSA sequences, GenBank accession numbers: NM_000487.5 and NP_000478.3. (b) Conformational changes induced by the p.E309K and p.E309Q missense mutation in the ARSA protein. (c) Conformational changes induced by the p.E309*, this mutation results in the early termination of codons and truncated proteins.