| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7871A>G | p.Asn2624Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAC | Asn | AGC | Ser | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #42 | Ca2+ binding | Yes, non coding strand | No |
| 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) |
|---|---|---|
| 1 | 0.17 (non pathogenous) | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0018 I73 | Proband | Female | de novo | At 4 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Isolated skeletal features |
| Symptom |
| S-Increased body length |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 82 | 10756346 | Palz M, Tiecke F, Booms P, Goldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann UC, von Kodolitsch Y, Nienaber CA, Leitner C, Katzke S, Vetter B, Hagemeier C, Robinson PN. "Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation". Am J Med Genet 2000 Mar 20;91(3):212-21. |