| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS29+4A>T (c.3712+4A>T) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl+4 | Spl. | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #16 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Not tested on cDNA | New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| CCGgtgagt |
| CCGgtgtgt |
| -9.4 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI06FUJ F0002 I0001 | Proband | NA | NA | CHINA |
| Phenotypic group | Disease |
| NA | Unknown |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 156 | 17680538 | Chen XJ, Wu YA, Chen FW, Chen FL, Huang Y, Huang XL, Ma XN, Chen T. [Two gene mutations in fibrillin 1 of Marfan syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Aug;24(4):440-2. |