Table 5.
αB-crystallin (CRYAB) mutations reported to cause muscle or heart disease, and functional characteristics.
| Mutation 1 | Phenotype 2 | Inheritance 3 | Thermal Stability | Aggregation | Hyperphosphorylation | Oligomer Size | Hetero-oligom/HSPB1 | Hetero-oligom/HSPB6 | HSPB8 Interaction | Chaperone Activity | References |
|---|---|---|---|---|---|---|---|---|---|---|---|
| c.3G>A (p.M1?) | infantile MFM | R | [234] | ||||||||
| c.60delC (p.S21Afs*24) | infantile MFM | R | [232] | ||||||||
| c.325G>C (p.D109H) | MFM + DCM + cat | D | [225] | ||||||||
| c.2326A>C (p.D109A) | MFM (+ DCM) + cat | D | [226] | ||||||||
| c.326A>G (p.D109G) | AxM + RCM | D | + | [227] | |||||||
| c.343delT (p.S115Pfs*14) | infantile MFM | R | + | [233,274] | |||||||
| c.358A>G (p.R120G) | MFM + HCM + cat | D | – | ++ | + | + | + | – – – | + | – | [167,222,250,253,257,267,272,294] |
| c.451C>T (p.Q151*) | MFM | D | – | + | + | – – – | – | – | +/– | [223,258,259,272] | |
| c.460G>A (p.G154S) | DM/DCM | D | – | = | = | = | +/– | [224,229,261] | |||
| c.464_465delCT (p.P155Rfs*9) | MFM | D | – | ++ | + | – – | – | – | +/– | [223,258,259,272] | |
| c.470G>A (p.R157H) | DCM | D | – | + | – | = | – | +/= | [228,261] | ||
| c.527A>G (p.*176Wext*19) | DCM + cat | D | [295] |
1 Reference sequences: NM_001885.3 (cDNA), NP_001876.1 (protein) 2 MFM/AxM/DM, myofibrillar/axial/distal myopathy; DCM/RCM/HCM, dilated/restrictive/hypertrophic cardiomyopathy; cat, cataract 3 D, dominant; R, recessive.