| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS4+1G>T (c.783+1G>T) | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | spl+1 | Spl. | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Sm,NM,NMH,FA,HD |
| At the mRNA level | On restriction map |
| 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 (%) | |||||
| CAGgtgagg |
| CAGttgagg |
| -27.7 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-BO19-S25L- | Relative | Female | 27 |
| Phenotypic group | Disease |
| Strong | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 7 | 9683585 | Giraud, S., Zhang, C. X., Serova-Sinilnikova, O., Wautot, V., Salandre, J., Buisson, N., ? Calender, A. (1998). Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. American Journal of Human Genetics, 63(2), 455?67. doi:10.1086/301953 |