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. Author manuscript; available in PMC: 2020 Feb 5.
Published in final edited form as: Cell Rep. 2020 Jan 21;30(3):881–892.e5. doi: 10.1016/j.celrep.2019.12.077

Figure 5. Disease-Associated Mutations in CAPN5-PC.

Figure 5.

(A) Multiple sequence alignment of PC2 from human calpain paralogs showing the location of NIV-causing mutations and functional residues on the primary structure. The p.G267S mutation is located on the PC2L2 loop shared between CAPN5 and CAPN6.

(B) Ribbon tracing representation of CAPN5-PC (light gray) highlighting location of mutations implicated in NIV. Green ribbon, G1 gating loop; pink ribbon, G2 gating loop; orange ribbons, PC1L1, PC2L1, and PC2L2 loops.