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Results for the Protein: Q9NVV9
29839656

THAP1_HUMAN RecName: Full=THAP domain-containing protein 1

Known Diseases associated with this Protein:
  DYSTONIA 6, TORSION
  DYSTONIA 6, TORSION (DYT6)
48
0
5
0
43
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Default View:

THAP - pfam05485
DM3 - smart00692


Swiss-Prot Protein: Q9NVV9
Identical to: NP_060575
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
THAPpfam054856.9e-32388
DM3smart006927.4e-182283

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067356Diseasep.ALA7ASPDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066704Diseasep.ALA166THRDystonia 6, torsion (DYT6)
Swiss-ProtVAR_065883Diseasep.ALA39THRDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066705Diseasep.ARG169GLNDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066688Diseasep.ARG29GLNDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066681Diseasep.ARG13HISDystonia 6, torsion (DYT6)
Swiss-ProtVAR_065882Diseasep.ARG29PRODystonia 6, torsion (DYT6)
Swiss-ProtVAR_066695Diseasep.ASN75ILEDystonia 6, torsion (DYT6)
Swiss-ProtVAR_065880Diseasep.ASN12LYSDystonia 6, torsion (DYT6)
Swiss-ProtVAR_065886Diseasep.ASN136LYSDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066699Diseasep.ASN136SERDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066709Diseasep.ASP192ASNDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066683Diseasep.ASP17GLYDystonia 6, torsion (DYT6)
Swiss-ProtVAR_065887Diseasep.CYS170ARGDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066697Diseasep.CYS83ARGDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066691Diseasep.CYS54PHEDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066708Diseasep.GLN187LYSDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066706Diseasep.GLU174GLYDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066680Diseasep.GLY9CYSDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066692Diseasep.HIS57ASNDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066703Diseasep.HIS150PRODystonia 6, torsion (DYT6)
Swiss-ProtVAR_066684Diseasep.HIS23PRODystonia 6, torsion (DYT6)
Swiss-ProtVAR_066702Diseasep.ILE149THRDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066696Diseasep.ILE80VALDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066694Diseasep.LEU72ARGDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066690Diseasep.LEU32HISDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066707Diseasep.LEU180SERDystonia 6, torsion (DYT6)
Swiss-ProtVAR_065885Diseasep.LYS89ARGDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066682Diseasep.LYS16GLUDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066685Diseasep.LYS24GLUDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066701Diseasep.MET143VALDystonia 6, torsion (DYT6)
Swiss-ProtVAR_054788Diseasep.PHE81LEUDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066698Diseasep.PHE132SERDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066687Diseasep.PRO26ARGDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066689Diseasep.PRO30ARGDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066686Diseasep.PRO26LEUDystonia 6, torsion (DYT6)
Swiss-ProtVAR_067357Diseasep.SER21CYSDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066677Diseasep.SER6PHEDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066678Diseasep.SER6PRODystonia 6, torsion (DYT6)
Swiss-ProtVAR_065881Diseasep.SER21THRDystonia 6, torsion (DYT6)
Swiss-ProtVAR_065884Diseasep.THR59ILEDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066700Diseasep.TYR137CYSDystonia 6, torsion (DYT6)
Swiss-ProtVAR_066679Diseasep.TYR8CYSDystonia 6, torsion (DYT6)
OMIM609520.0007 Diseasep.GLY9CYSDYSTONIA 6, TORSION
OMIM609520.0009 Diseasep.HIS23PRODYSTONIA 6, TORSION
OMIM609520.0004 Diseasep.LYS89ARGDYSTONIA 6, TORSION
OMIM609520.0008 Diseasep.LYS24GLUDYSTONIA 6, TORSION
OMIM609520.0002 Diseasep.PHE81LEUDYSTONIA 6, TORSION



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