Variant position: 29 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 161 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 VEQLTEEQKNEFKAAFDIFV LGAEDGCISTKELGKVMRMLG
Mouse VEQLTEEQKNEFKAAFDIFV LGAEDGCISTKELGKVMRMLG
Pig VEQLTEEQKNEFKAAFDIFV LGAEDGCISTKELGKVMRMLG
Bovine VEQLTEEQKNEFKAAFDIFV LGAEDGCISTKELGKVMRMLG
Rabbit VEQLTEEQKNEFKAAFDIFV LGAEDGCISTKELGKVMRMLG
Chicken VEQLTEEQKNEFKAAFDIFV LGAEDGCISTKELGKVMRMLG
Drosophila SDELTKEQTALLRNAFNAFD -PEKNGYINTAMVGTILSMLG
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
1 – 161 Troponin C, slow skeletal and cardiac muscles
16 – 51 EF-hand 1
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.
Hoffmann B.; Schmidt-Traub H.; Perrot A.; Osterziel K.J.; Gessner R.;
Hum. Mutat. 17:524-524(2001)
Cited for: VARIANT CMH13 GLN-29;
Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.
Schmidtmann A.; Lindow C.; Villard S.; Heuser A.; Mugge A.; Gessner R.; Granier C.; Jaquet K.;
FEBS J. 272:6087-6097(2005)
Cited for: CHARACTERIZATION OF VARIANT CMH13 GLN-29;
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