| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS4+1G>A (c.783+1G>A) | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | spl+1 | Spl. | G->A | Ts |
| 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 |
| CAGatgagg |
| -27.7 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 04-IB01-F12O- | Proband | Female | 31 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 5 | 10664520 | Morelli, A., Falchetti, A., Martineti, V., Becherini, L., Mark, M., Friedman, E., & Brandi, M. L. (2000). MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1. European Journal of Endocrinology / European Federation of Endocrine Societies, 142(2), 131?7. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10664520 |