| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6580G>T | p.Glu2194X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | TAG | Stop | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #33 | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| SPA01MAD F0001 I0003 | Relative | Female | familial | SPAIN |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Severity | Age |
| CNS-Lumbosacral dural ectasia | 23 | |
| S-Arachnodactyly (M) | 23 | |
| S-Joint hypermobility (m) | 23 | |
| S-Pectus carinatum (M)(2) | 23 | |
| S-Scoliosis > 20° (M)(1) | mild | 23 |
| Reference ID | PubMed ID | Reference |
| 235 | 21840105 | D’az de Bustamante A, Ruiz-Casares E, Darnaude MT, Perucho T, Mart’nez-Quesada G. "Phenotypic variability in Marfan syndrome in a family with a novel nonsense FBN1 gene mutation". Rev Esp Cardiol (Engl Ed). 2012 Apr;65(4):380-1. |