| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS3-1G>T (c.655-1G>T) | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGC | Ser | spl-1 | Spl. | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,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 (%) | |||||
| tccccccctaagAG |
| tccccccctaatAG |
| -35.5 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-MA20-H21B- | Proband | Male | 68 |
| Phenotypic group | Disease |
| Not available | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 23 | 9709985 | Menin Mutations In MEN1 Patients Bernhard Mayr, Georg Brabant, and Alexander von zur MŸhlen The Journal of Clinical Endocrinology & Metabolism 1998 83:8, 3004-3005 |