Results for the protein: Q9NVV9

Results for the Protein: Q9NVV9

29839656

55145

THAP1

NCBI, UniProt

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 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DM3	smart00692	7.4e-18	22	83

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067356	Disease	p.ALA7ASP	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066704	Disease	p.ALA166THR	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_065883	Disease	p.ALA39THR	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066705	Disease	p.ARG169GLN	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066688	Disease	p.ARG29GLN	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066681	Disease	p.ARG13HIS	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_065882	Disease	p.ARG29PRO	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066695	Disease	p.ASN75ILE	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_065880	Disease	p.ASN12LYS	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_065886	Disease	p.ASN136LYS	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066699	Disease	p.ASN136SER	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066709	Disease	p.ASP192ASN	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066683	Disease	p.ASP17GLY	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_065887	Disease	p.CYS170ARG	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066697	Disease	p.CYS83ARG	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066691	Disease	p.CYS54PHE	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066708	Disease	p.GLN187LYS	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066706	Disease	p.GLU174GLY	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066680	Disease	p.GLY9CYS	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066692	Disease	p.HIS57ASN	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066703	Disease	p.HIS150PRO	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066684	Disease	p.HIS23PRO	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066702	Disease	p.ILE149THR	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066696	Disease	p.ILE80VAL	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066694	Disease	p.LEU72ARG	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066690	Disease	p.LEU32HIS	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066707	Disease	p.LEU180SER	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_065885	Disease	p.LYS89ARG	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066682	Disease	p.LYS16GLU	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066685	Disease	p.LYS24GLU	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066701	Disease	p.MET143VAL	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_054788	Disease	p.PHE81LEU	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066698	Disease	p.PHE132SER	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066687	Disease	p.PRO26ARG	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066689	Disease	p.PRO30ARG	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066686	Disease	p.PRO26LEU	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_067357	Disease	p.SER21CYS	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066677	Disease	p.SER6PHE	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066678	Disease	p.SER6PRO	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_065881	Disease	p.SER21THR	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_065884	Disease	p.THR59ILE	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066700	Disease	p.TYR137CYS	Dystonia 6, torsion (DYT6)
Swiss-Prot	VAR_066679	Disease	p.TYR8CYS	Dystonia 6, torsion (DYT6)
OMIM	609520.0007	Disease	p.GLY9CYS	DYSTONIA 6, TORSION
OMIM	609520.0009	Disease	p.HIS23PRO	DYSTONIA 6, TORSION
OMIM	609520.0004	Disease	p.LYS89ARG	DYSTONIA 6, TORSION
OMIM	609520.0008	Disease	p.LYS24GLU	DYSTONIA 6, TORSION
OMIM	609520.0002	Disease	p.PHE81LEU	DYSTONIA 6, TORSION

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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