| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS3-6C>A (c.655-6C>A) | Heterozygous | UV |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGC | Ser | spl-6 | Spl. | C->A | 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 |
| tcccccactaagAG |
| -4.2 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 04-FR01-F05R- | Relative | Female | 66 |
| Phenotypic group | Disease |
| asymptomatic | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 13 | 16563611 | J*ger, A. C., Friis-Hansen, L., Hansen, T. V. O., Eskildsen, P. C., S¿lling, K., Knigge, U., ? Nielsen, F. C. (2006). Characteristics of the Danish families with multiple endocrine neoplasia type 1. Molecular and Cellular Endocrinology, 249(1-2), 123?32. doi:10.1016/j.mce.2006.02.008 |