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Figure 1 | BMC Anesthesiology

Figure 1

From: Update of the EMHG database on genetic variants in type 1 ryanodine receptor and their possible impact on phenotype

Figure 1

Location of the newly Identified and functionally characterized RYR1 variants in the RYR1 gene. MH I-III: Hot spots in which most MH associated mutations are found today. MH I = N-terminal region (p.C35-p.R614), MH II = central region (p.D2129-p.R2458), MH III = C-terminal region (p.l3916-p.G4942). The variant p.H4833Y (in bold) fulfils all criteria to be used in genetic testing and is therefore a causative mutation.

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