| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS3+1G>A (c.654+1G>A) | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGG | Arg | spl+1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,Sm,NMH,HD,NM |
| Other variation(s) reported for this sample: c.61C>A |
| 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 (%) | |||||
| CGGgtattg |
| CGGatattg |
| -37.2 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 02-SR09-S21G- | Proband | Female | 30 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 45 | 22275377 | Canaff L, Vanbellinghen J-F, Kaji H, Goltzman D, Hendy GN. Impaired Transforming Growth Factor-? (TGF-?) Transcriptional Activity and Cell Proliferation Control of a Menin In-frame Deletion Mutant Associated with Multiple Endocrine Neoplasia Type 1 (MEN1). The Journal of Biological Chemistry. 2012;287(11):8584-8597. doi:10.1074/jbc.M112.341958. |