The UMD-THAP1 mutations database
Record ID: 15
Mutation description
| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.377_378delCT | p.Pro126ArgfsX2 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCT | Pro | del2b | Fs. | Stop at 127 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Mutation impact
| At the mRNA level | On restriction map |
| No mechanism suspected | 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 F0002 I0001 | patient 1 | - | Proband | Female | Familial | FRANCE |
| Phenotypic group | Disease |
| NA | Generalized dystonia |
Associated pictures
 Genealogic tree |
Clinical data
| Symptom | Severity | Age |
| Age at last examination | 52 | |
| Age of onset | leg | 4 |
| Arm | 52 | |
| Cranial | 52 | |
| Leg | 4 | |
| Neck | Severe | 52 |
| Speech | 52 |
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. |