Results for the protein: P45379

Results for the Protein: P45379

21264536

7139

TNNT2

NCBI, UniProt

TNNT2_HUMAN RecName: Full=Troponin T, cardiac muscle; Short=TnTc; AltName: Full=Cardiac muscle troponin T; Short=cTnT

Known Diseases associated with this Protein:
CARDIOMYOPATHY, DILATED 1D (CMD1D)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 2 (CMH2)

21

7

0

0

28

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View:	Swiss-Prot Protein: P45379 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_016197	Disease	p.ALA114VAL	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_067259	Disease	p.ALA38VAL	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_042747	Disease	p.ARG140CYS	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_007612	Disease	p.ARG288CYS	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_019880	Disease	p.ARG296CYS	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_007606	Disease	p.ARG102GLN	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_016195	Disease	p.ARG102LEU	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_009194	Disease	p.ARG104LEU	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_043984	Disease	p.ARG215LEU	Cardiomyopathy, dilated 1D (CMD1D)
Swiss-Prot	VAR_013021	Polymorphism	p.ARG139LYS	N/A
Swiss-Prot	VAR_029450	Polymorphism	p.ARG140LYS	N/A
Swiss-Prot	VAR_007613	Disease	p.ARG288PRO	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_016196	Disease	p.ARG102TRP	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_043983	Disease	p.ARG141TRP	Cardiomyopathy, dilated 1D (CMD1D)
Swiss-Prot	VAR_016198	Disease	p.ARG151TRP	Cardiomyopathy, dilated 1D (CMD1D)
Swiss-Prot	VAR_019879	Disease	p.ASN281ILE	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_029451	Polymorphism	p.ASN279TYR	N/A
Swiss-Prot	VAR_007610	Disease	p.GLU254ASP	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_007609	Disease	p.GLU173LYS	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_007605	Disease	p.ILE89ASN	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_042748	Polymorphism	p.ILE221THR	N/A
Swiss-Prot	VAR_057310	Polymorphism	p.ILE231THR	N/A
Swiss-Prot	VAR_007611	Polymorphism	p.LYS263ARG	N/A
Swiss-Prot	VAR_007607	Disease	p.PHE120ILE	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_019877	Disease	p.PHE80LEU	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_019878	Disease	p.PHE120VAL	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_016199	Disease	p.SER189PHE	Cardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-Prot	VAR_013022	Polymorphism	p.SER249THR	N/A

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258