Variant position: 38 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 EAAVEEEEDWREDEDEQEEA AEEDA--------EAEA-ETEETRAEEDEE
Mouse EDWSEEE------EDEQEEA VEEEEAGGAEPEPEGEA-ETE
Rat EDWSEEE------EDEQEEA VEEED-GEAEPDPEGEA-EAE
Bovine A------------EEEHEEA VEEEA--------GGEA-EAG
Rabbit EEAAAEEEDWREDEDEQEAG EEEEA----GGGREAEA-ETE
Sheep A------------VEEHEES VEEEA--------GGEARQGG
Chicken EYVEEEEEEWLEEDDGQEDQ VDEEE----EETEETTA-EEQ
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
23 – 23 Missing. In isoform 2 and isoform 4.
54 – 54 Missing. In isoform 3, isoform 4 and isoform 12.
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.