| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS4-9G>A (c.784-9G>A) | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | spl-9 | 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 (%) | |||||
| tctctccttcggctc |
| tctctccttcAgctc |
| 31.6 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 01-BR21-J05A- | Proband | Male | 64 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 27 | 15670192 | Ellard, S., Hattersley, A. T., Brewer, C. M. and Vaidya, B. (2005), Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. Clinical Endocrinology, 62: 169?175. doi: 10.1111/j.1365-2265.2005.02190.x |