Table 1. Amino acid alignment in region of all eight variants studied and the corresponding transgenic C. elegans strains generated.
| Human Condition | RyR1 Variant | Protein | Alignment | Transgenic Strain with Variant Fosmid Only | Transgenic Strain Also Including Wild-Type Fosmid |
|---|---|---|---|---|---|
| Malignant hyperthermia | p.G341R c.1021G > A | RyR1 | KRDVEGMGPPEIKYGESLCFVQHVASGLW | UL4141 (UL4193) | UL4167 (UL4200) |
| UNC-68 | EKEEEGMGNATIRYGETNAFIQHVKTQLW | ||||
| p.R2163H c.6488G > A | RyR1 | DTMSLLECLGQIRSLLIVQMGPQEENLMI | UL4147 (UL4194) | UL4153 (UL4198) | |
| UNC-68 | DVTDFLVYLIQIRELLTVQFEHTEEAILK | ||||
| p.R2454H c.7361G > A | RyR1 | CAPEMHLIQAGKGEALRIRAILRSLVPLE | UL4143 (UL4195) | UL4165 (UL4206) | |
| UNC-68 | CAPDPMAIQAGKGDSLRARAILRSLISLD | ||||
| p.R2458H c.7373G > A | RyR1 | IQAGKGEALRIRAILRSLVPLEDLVGIIS | UL4144 (UL4201) | UL4158 (UL4197) | |
| UNC-68 | IQAGKGDSLRARAILRSLISLDDLGQILA | ||||
| Central core disease | p.R4861H 14582G > A | RyR1 | VVVYLYTVVAFNFFRKFY-NKSEDEDEPD | _ | UL4152 (UL4205) |
| UNC-68 | VVVYLYTVIAFNFFRKFYVQEGEEGEEPD | ||||
| p.A4940T c.14820G > A | RyR1 | FFFFVIVILLAIIQGLIIDAFGELRDQQE | UL4157 (UL4203) | UL4156 (UL4202) | |
| UNC-68 | FFFFVIIILLAIMQGLIIDAFGELRDQQE | ||||
| Exertional heat illness | p.R163C c.487C > T | RyR1 | CWWTMHPASKQRSEGEKVRVGDDIILVSV | UL4155 (UL4191) | UL4160 (UL4192) |
| UNC-68 | CWWTIHPASKQRSEGEKVRVGDDVILVSV | ||||
| Late-onset axial myopathy | p.K3452Q c.10354A > C | RyR1 | IFIYWSKSHNFKREEQNFVVQNEINNMSF | UL4168 (UL4196) | UL4169 (UL4199) |
| UNC-68 | IFRIWSQSQHFKREELNYVAQFEEDAAAT |
Human variant residues and corresponding C. elegans residues are underlined. Amino acids identical in RyR1 and UNC-68 are in bold. Strains in brackets also have the chromosomally integrated myo-3::gfp, rol-6(su1006) transgenes. UL4140 is transgenic for the wild-type unc-68 fosmid and UL4190 is the corresponding strain with the chromosomally integrated myo-3::gfp, rol-6(su1006) transgenes.