| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4257T>A | p.Ser1419Arg |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGT | Ser | AGA | Arg | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CRD-repeat #10 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 71 (Probably 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 |
| ---MD_HU#2793 | Proband | M | HU |
| Phenotypic group |
| Reference ID | Reference |
| 0 | Unpublished data |