Table 9.
BAG3 mutations reported to cause neuromuscular or cardiac disease.
| Mutation 1 | Phenotype 2 | References |
|---|---|---|
| c.211C>T (p.R71W) | DCM | [517] |
| c.268C>T (p.R90*) | DCM | [517] |
| c.326A>G (p.H109R) | DCM | [517] |
| c.367C>T (p.R123*) | DCM | [517] |
| delEx3-4 | DCM | [518] |
| delEx4 | DCM | [517] |
| c.625C>T (p.P209S) | CMT | [519,520] |
| c.626C>T (p.P209L) | MFM | [464,505,506,507,508,509,510,511,512,513,514] |
| c.626C>A (p.P209Q) | MFM | [503,504] |
| c.652C>T (p.R218W) | DCM | [521,522] |
| c.652delC (p.R218Gfs*89) | DCM | [517] |
| c.727delC (p.H243Tfs*64) | DCM | [523] |
| c.752delA (p.Q251Rfs*56) | DCM | [524] |
| c.784G>A (p.A262T) | DCM | [517] |
| c.913delC (p.M306*) | DCM | [525] |
| c.925C>T (p.R309*) | DCM | [524] |
| c.1055delC (p.Q353Rfs*10) | DCM | [518] |
| c.1135delG (p.G379Afs*45) | DCM | [518] |
| c.1153_1160delTCTTCCCC (p.S385Qfs*56) | DCM | [524] |
| c.1181_1182delGA (p.R395fs*48) | DCM | [524] |
| c.1353C>A (p.T451*) | DCM | [518] |
| c.1363G>A (p.E455K) | DCM | [518,524] |
| c.1385T>C (p.L462P) | DCM | [521] |
| c. 1402G>A (p.V468M) | DCM | [524] |
| c.1408C>T (p.P470S) | MFM | [106] |
| c.1430G>A (p.R477H) | DCM | [517] |
1 Reference sequences: NM_004281.3 (cDNA), NP_004272.2 (protein) 2 DCM, dilated cardiomyopathy; CMT, Charcot–Marie–Tooth; MFM, myofibrillar myopathy.