| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8174_8181del | p.Arg2726GlufsX9 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAA | Lys | del8b | Fs. | Stop at 2734 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif |
| At the mRNA level | On restriction map |
| Deletion flanked by direct repeats | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| JAP02TOK F0045 I0001 | Proband | Female | NA | JAPAN |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Severity | Age |
| CF-Craniosynostosis | 5,5 | |
| CF-Down-slanting palpebral fissures | 10 | |
| CF-Proptosis | 10 | |
| CF-Retrognathia | 10 | |
| CF-Scaphocephaly | 10 | |
| CNS-Lumbosacral dural ectasia | 10 | |
| O-Myopia >3 diopters (1) | bilateral | 10 |
| S-Abnormal ears | ||
| S-Arachnodactyly (M) | ||
| S-Pectus excavatum moderate (m)(1) | 10 |
| Reference ID | PubMed ID | Reference |
| 269 | 24039054 | Takenouchi T, Hida M, Sakamoto Y, Torii C, Kosaki R, Takahashi T, Kosaki K. "Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype". Am J Med Genet A. 2013 Dec;161A(12):3057-62. |