| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1523T>G | p.Phe508Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTT | Phe | TGT | Cys | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| NBD1 | Yes, coding strand | No |
| Mutation(s) on the other allele: c.1624G>T (p.Gly542X) |
| 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) |
| 0,92 | 0.01 (pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-04721-01446 | Proband | Male | Autosomal recessive |
| Phenotypic group | Disease |
| CBAVD |
| Reference ID | Reference |
| 1 | Unpublished data |