| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7879G>A | p.Gly2627Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGG | Gly | AGG | Arg | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #42 | Domain-domain packing | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Bsu36 I, Dde I Lost restriction site(s): BsaJ I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.02 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FIN01HEL F0013 I01 | Proband | Female | familial | as teenager | FINLAND |
| Phenotypic group | Disease |
| Type III | Incomplete MFS |
| Symptom |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Increased body length |
| Reference ID | PubMed ID | Reference |
| 14 | 7977366 | Karttunen L, Raghunath M, Lonnqvist L, Peltonen L. "A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype". Am J Hum Genet 1994 Dec;55(6):1083-91 . |