| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1327G>T | p.Asp443Tyr | Heterozygous | Complex allele |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | TAT | Tyr | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| NBD1 | Yes, non coding strand | No |
| Mutation(s) on the other allele: c.1624G>T (p.Gly542X) |
| Other mutation(s) or variations included in a complex allele: c.2002C>T (p.Arg668Cys); c.1727G>C (p.Gly576Ala) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Pathogenicity (bioinformatics predictions) | ||
| Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
| 0,94 | 0.01 (pathogenous) | 93 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-03350-00941 | Proband | Male | Autosomal recessive |
| Phenotypic group | Disease |
| CBAVD |
| Reference ID | Reference |
| 1 | Unpublished data |