Variant position: 116 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 210 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 LCRQLHARVDKVDEERYDIE AKVTKNITEIADLTQKIFDLR
Mouse LCRQLHARVDKVDEERYDVE AKVTKNITEIADLTQKIYDLR
Rat LCRQLHARVDKVDEERYDVE AKVTKNITEIADLTQKIYDLR
Bovine LCRQLHARVDKVDEERYDVE AKVTKNITEIADLNQKIFDLR
Rabbit LCRQLHARVDKVDEERYDVE AKVTKNITEIADLTQKIFDLR
Cat LCRQLHARVDKVDEERYDVE AKVTKNITEIADLTQKIFDLR
Horse LCRQLHARVDKVDEERYDVE AKVTKNITEIADLNQKIFDLR
Xenopus laevis LCQELHARIDVVDEERYDME AKVNKNITELEDLNQKIFDLR
Caenorhabditis elegans IYEDMFARVCALEEEKFDIN FGVSQTEAEINQLTIQVNDLR
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 – 210 Troponin I, cardiac muscle
97 – 97 Involved in TNI-TNT interactions
129 – 129 Phosphothreonine; by STK4/MST1
90 – 136
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: VARIANT CMD1FF GLY-116;
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.