| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6379G>T | p.Asp2127Tyr | Heterozygous | 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 |
| cb EGF-like #32 | Ca2+ binding | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| Last nucleotide of the exon, cDNA not tested | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| JAP03OSA F0006 I0001 | Proband | Male | familial | ? 36 years old) | JAPAN |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| O-Incomplete description |
| S-Incomplete description |
| Reference ID | PubMed ID | Reference |
| 55 | 11139245 | Matsukawa R, Iida K, Nakayama M, Mukai T, Okita Y, Ando M, Takamoto S, Nakajima N, Morisaki H, Morisaki T. "Eight novel mutations of the FBN1 gene found in japanese patients with marfan syndrome". Hum Mutat 2001;17(1):71-2. |