| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.229C>T | p.Arg77X | Homozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | TGA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UVS1KO | Proband | JAPAN |
| Phenotypic group | Disease |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 9 | 15486090 | Horibata K, Iwamoto Y, Kuraoka I, Jaspers NG, Kurimasa A, Oshimura M, Ichihashi M, Tanaka K. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc Natl Acad Sci U S A 2004;101(43):15410-5. |