| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS25+5G>T (c.3208+5G>T) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl+5 | Spl. | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Skipping of exon 25, in frame | 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 (%) | |||||
| CAGgtcagt |
| CAGgtcatt |
| -13 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0070 I0001 | Proband | NA | NA | GERMANY |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 129 | - | Robinson P. (Personnal comunication 2004-2006). |