Sequence information
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:
VEQLTEEQKNEFKAAFDIFV
L GAEDGCISTKELGKVMRMLG
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 VEQLTEEQKNEFKAAFDIFVL GAEDGCISTKELGKVMRMLG
Mouse VEQLTEEQKNEFKAAFDIFVL GAEDGCISTKELGKVMRMLG
Pig VEQLTEEQKNEFKAAFDIFVL GAEDGCISTKELGKVMRMLG
Bovine VEQLTEEQKNEFKAAFDIFVL GAEDGCISTKELGKVMRMLG
Rabbit VEQLTEEQKNEFKAAFDIFVL GAEDGCISTKELGKVMRMLG
Chicken VEQLTEEQKNEFKAAFDIFVL GAEDGCISTKELGKVMRMLG
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
Chain
1 – 161
Troponin C, slow skeletal and cardiac muscles
Domain
16 – 51
EF-hand 1
Literature citations
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;
Disclaimer:
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.