| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS7+5G>A (c.1049+5G>A) | Heterozygous | LIKELY CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl+5 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,NF,Pem,NM,RP,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 (%) | |||||
| GGAgtgagg |
| GGAgtgaag |
| -15.3 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 02-RI03-R15B- | Proband | Male | 61 |
| Phenotypic group | Disease |
| Moderate | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 12 | 10812010 | Roijers, J. F., Apel, T., Neumann, H. P., Arnim, U. V, Lips, C. J., & Hoppener, J. W. (2000). Internally shortened menin protein as a consequence of alternative RNA splicing due to a germline deletion in the multiple endocrine neoplasia type 1 gene. International Journal of Molecular Medicine, 5(6), 611?4. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10812010 |