| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS4-1G>C (c.784-1G>C) | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | spl-1 | Spl. | G->C | 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 (%) | |||||
| ttcggctcctagAA |
| ttcggctcctacAA |
| -35.9 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-LA08-A02D- | Proband | Male | 39 |
| Phenotypic group | Disease |
| 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 |