Table 7.
HSPB3 mutations causing neuromuscular disease.
| Mutation 1 | Phenotype | Effects | Ref |
|---|---|---|---|
| c.21 G>T (p.R7S) | dHMN | slightly altered oligomerization | [378,392] |
| p.L34Ffs*50 (p.A33Afs*50 in [389]) | myopathy | unstable protein, loss of HSPB2 regulation | [389] |
| p.R116P | myopathy with axonal neuropathy | aggregation, loss of HSPB2 interaction and regulation | [389] |
| c.352T>C (p.Y118H) | CMT2 | not determined, likely loss of HSPB2 interaction and regulation | [393] |
1 Reference sequences: NM_006308.3 (cDNA), NP_006299.1 (protein).