Variant position: 141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 298 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human ENRKKEEEELVSLKDRIERR RAERAEQQRIRNEREKERQNR
Mouse ENRKKEEEELISLKDRIEKR RAERAEQQRIRNEREKERQNR
Rat ENRKKEEEELISLKDRIEKR RAERAEQQRIRNEREKERQNR
Bovine ENRKKEEEELVSLKDRIEKR RAERAEQQRIRAEREKERQTR
Rabbit ENRKKEEEELVSLKDRIEKR RAD-AEQLRIRAEREKERQNR
Sheep ENRKKEEEELVSLKDRIEKR RAERAEQQRIRTEREKERQAR
Chicken ESRKKEEEELISLKDRIEQR RAERAEQQRIRSEREKERQAR
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
2 – 298 Troponin T, cardiac muscle
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.
Mogensen J.; Murphy R.T.; Shaw T.; Bahl A.; Redwood C.; Watkins H.; Burke M.; Elliott P.M.; McKenna W.J.;
J. Am. Coll. Cardiol. 44:2033-2040(2004)
Cited for: VARIANTS CMD1D TRP-141; LEU-215 AND LYS-220 DEL;
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
Millat G.; Bouvagnet P.; Chevalier P.; Sebbag L.; Dulac A.; Dauphin C.; Jouk P.S.; Delrue M.A.; Thambo J.B.; Le Metayer P.; Seronde M.F.; Faivre L.; Eicher J.C.; Rousson R.;
Eur. J. Med. Genet. 54:E570-E575(2011)
Cited for: VARIANTS CMH2 VAL-38 AND CYS-288; VARIANTS CMD1D TRP-141 AND LYS-220 DEL;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.