The UMD-THAP1 mutations database
Record ID: 14
Mutation description
| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.514dup | p.Arg172LysfsX7 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGG | Arg | ins1b | Fs. | Stop at 178 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Coiled-Coil dom. |
Mutation impact
| At the mRNA level | On restriction map |
| Duplication in a stretch of nucleotides | New restriction site(s): none Lost restriction site(s): none |
Patient and sample data
| Sample ID | Patient ID | Family ID | Patient status | Gender | Transmission | Geographic origin |
| FRA01MON F0001 I0001 | patient 3 | - | Proband | Male | No family history | FRANCE |
| Phenotypic group | Disease |
| NA | Segmental dystonia |
Associated pictures
 Genealogic tree |
Clinical data
| Symptom | Severity | Age |
| Age at last examination | 38 | |
| Age of onset | arm | 9 |
| Arm | 9 | |
| Neck | 14 | |
| Spontaneous complete remission (honeymoon) | from 18 to 22 | 18 |
Reference
| Reference ID | PubMed ID | Reference |
| 4 | 21520283 | A. Blanchard, A. Roubertie, M. Simonetta-Moreau, V. Ea, C. Coquart, M. Y. Frederic, G. Gallouedec, J.-P. Adenis, I. Benatru, M. Borg, P. Burbaud, P. Calvas, L. Cif , P. Damier, A. Destee, L. Faivre, L. Guyant-Marechal, P. Janik, S. Janoura, A. Kreisler, A. Lusakowska, S. Odent, A. Potulska-Chromik, M. Rudziska, S. Thobois, I. Vuillaume, C. Tranchant, S. Tuffery-Giraud, P. Coubes, B. Sablonni*re, M. Claustres, G. Collod-B*roud. S i n g u l a r D Y T 6 p h e n o t y p e s i n a s s o c i a t i o n w i t h n e w T H A P 1 f r a m e s h i f t m u t a t i o n s . Mov Disord. 2011 Aug 1;26(9):1775-7. |