| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS9-1G>T (c.1351-1G>T) | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTG | Val | spl-1 | Spl. | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Pem,NM,CH |
| 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 (%) | |||||
| ccactggcccagGT |
| ccactggcccatGT |
| -34.1 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-OL09-M01R- | Proband | Female | 76 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 18 | 17185897 | Tala, H. P., Carvajal, C. A., Gonz‡lez, A. A., Garrido, J. L., Tobar, J., Solar, A., ? Fardella, C. E. (2006). New splicing mutation of MEN1 gene affecting the translocation of menin to the nucleus. Journal of Endocrinological Investigation, 29(10), 888?93. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/17185897 |