| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3422C>T | p.Pro1141Leu | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCG | Pro | CTG | Leu | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #13 | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ISR01HAI F0001 I0001 | Proband | Male | NA | ISRAEL |
| Phenotypic group | Disease |
| NA | MASS |
| Symptom | Severity |
| C-Mitral valve prolapse | mild |
| O-Myopia >3 diopters (1) | |
| S-Joint hypermobility (m) | finger |
| S-Kyphosis | mild |
| S-Reduced extension of the elbows (<170°)(M)(1) | |
| S-Scoliosis > 20° (M)(1) | mild |
| Reference ID | PubMed ID | Reference |
| 284 | 24740214 | Bergman R, Nevet MJ, Gescheidt-Shoshany H, Pimienta AL, Reinstein E. "Atrophic Skin Patches With Abnormal Elastic Fibers as a Presenting Sign of the MASS Phenotype Associated With Mutation in the Fibrillin 1 Gene". JAMA Dermatol. 2014 Apr 16. doi: 10.1001/jamadermatol.2013.10036. [Epub ahead of print] |