Results for the protein: P19429

Results for the Protein: P19429

136213

7137

TNNI3

NCBI, UniProt

TNNI3_HUMAN RecName: Full=Troponin I, cardiac muscle; AltName: Full=Cardiac troponin I

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED 1FF (CMD1FF)
  CARDIOMYOPATHY, DILATED 2A (CMD2A)
  CARDIOMYOPATHY, DILATED, 1FF
  CARDIOMYOPATHY, DILATED, 2A
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 7 (CMH7)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
  CARDIOMYOPATHY, FAMILIAL RESTRICTIVE 1 (RCM1)
  CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
  CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, INCLUDED

36

4

15

3

22

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: Troponin-I_N - pfam11636	Swiss-Prot Protein: P19429 Identical to: NP_000354 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_067264	Disease	p.ALA116GLY	Cardiomyopathy, dilated 1FF (CMD1FF)
Swiss-Prot	VAR_016081	Disease	p.ALA171THR	Cardiomyopathy, familial restrictive 1 (RCM1)
Swiss-Prot	VAR_019873	Disease	p.ALA157VAL	Cardiomyopathy, familial hypertrophic 7 (CMH7)
Swiss-Prot	VAR_043989	Disease	p.ALA2VAL	Cardiomyopathy, dilated 2A (CMD2A)
Swiss-Prot	VAR_029453	Polymorphism	p.ARG79CYS	N/A
Swiss-Prot	VAR_019872	Disease	p.ARG141GLN	Cardiomyopathy, familial hypertrophic 7 (CMH7)
Swiss-Prot	VAR_042745	Disease	p.ARG162GLN	Cardiomyopathy, familial hypertrophic 7 (CMH7)
Swiss-Prot	VAR_019876	Disease	p.ARG186GLN	Cardiomyopathy, familial hypertrophic 7 (CMH7)
Swiss-Prot	VAR_007603	Disease	p.ARG145GLY	Cardiomyopathy, familial hypertrophic 7 (CMH7)
Swiss-Prot	VAR_016084	Disease	p.ARG192HIS	Cardiomyopathy, familial restrictive 1 (RCM1)
Swiss-Prot	VAR_042746	Disease	p.ARG204HIS	Cardiomyopathy, familial hypertrophic 7 (CMH7)
dbSNP	rs3729841	Polymorphism	p.ARG179LYS	N/A
dbSNP	rs3729710	Polymorphism	p.ARG66LYS	N/A
Swiss-Prot	VAR_019874	Disease	p.ARG162PRO	Cardiomyopathy, familial hypertrophic 7 (CMH7)
Swiss-Prot	VAR_016080	Disease	p.ARG145TRP	Cardiomyopathy, familial restrictive 1 (RCM1)
Swiss-Prot	VAR_063549	Disease	p.ASN185LYS	Cardiomyopathy, dilated 1FF (CMD1FF)
Swiss-Prot	VAR_016085	Disease	p.ASP196ASN	Cardiomyopathy, familial hypertrophic 7 (CMH7)
Swiss-Prot	VAR_016083	Disease	p.ASP190HIS	Cardiomyopathy, familial restrictive 1 (RCM1)
dbSNP	rs3729711	Polymorphism	p.GLY68VAL	N/A
Swiss-Prot	VAR_016079	Disease	p.LEU144GLN	Cardiomyopathy, familial restrictive 1 (RCM1)
Swiss-Prot	VAR_007604	Disease	p.LYS206GLN	Cardiomyopathy, familial hypertrophic 7 (CMH7)
Swiss-Prot	VAR_063548	Disease	p.LYS36GLN	Cardiomyopathy, dilated 1FF (CMD1FF)
Swiss-Prot	VAR_016082	Disease	p.LYS178GLU	Cardiomyopathy, familial restrictive 1 (RCM1)
Swiss-Prot	VAR_016078	Disease	p.PRO82SER	Cardiomyopathy, familial hypertrophic 7 (CMH7)
Swiss-Prot	VAR_029454	Disease	p.SER166PHE	Cardiomyopathy, familial hypertrophic 7 (CMH7)
OMIM	191044.0011	Disease	p.ALA171THR	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
OMIM	191044.0009	Disease	p.ALA2V	CARDIOMYOPATHY, DILATED, 2A
OMIM	191044.0016	Disease	p.ARG21CYS	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
OMIM	191044.0001	Disease	p.ARG145GLY	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
OMIM	191044.0006	Disease	p.ARG192HIS	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
OMIM	191044.0008	Disease	p.ARG145TRP	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
OMIM	191044.0013	Disease	p.ASN185LYS	CARDIOMYOPATHY, DILATED, 1FF
OMIM	191044.0004	Disease	p.ASP196ASN	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
OMIM	191044.0005	Disease	p.ASP190GLY	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7\|\|CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, INCLUDED
OMIM	191044.0014	Disease	p.GLY203SER	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
OMIM	191044.0010	Disease	p.LEU144GLN	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
OMIM	191044.0002	Disease	p.LYS206GLN	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
OMIM	191044.0012	Disease	p.LYS36GLN	CARDIOMYOPATHY, DILATED, 1FF
OMIM	191044.0007	Disease	p.LYS178GLU	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
OMIM	191044.0003	Disease	p.PRO82SER	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

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