| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1351G>T | p.Asp451Tyr | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | TAT | Tyr | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CRD-repeat #2 | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| 2RNAS: del exon 12 + 1332-1360del | New restriction site(s): none Lost restriction site(s): Dpn I, Dpn II, Mbo I, Sau3A I |
| Pathogenicity (bioinformatics predictions) | ||
| Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
| 0 | - | 88 (Pathogenous) |
| On isoforms (a blue cell indicates that the corresponding isoform is affected by the mutation) | ||||||
| Dp 427c | Dp 427m | Dp 427p | Dp 260 | Dp 140 | Dp 116 | Dp 71 |
| Immunofluorescence | ||||||
| dys 1 | dys 2 | dys 3 | ||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---027-0-1 | Proband | Male | Familial | 1,5 | FRANCE |
| Phenotypic group |
| BMD |
| + Cardiomyopathy |
| Reference ID | Reference |
| 1 | Unpublished data |