Variant position: 98 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 149 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 KDTDSEEEIREAFRVFDKDG NGYISAAELRHVMTNLGEKLT
Mouse KDTDSEEEIREAFRVFDKDG NGYISAAELRHVMTNLGEKLT
Rat KDTDSEEEIREAFRVFDKDG NGYISAAELRHVMTNLGEKLT
Bovine KDTDSEEEIREAFRVFDKDG NGYISAAELRHVMTNLGEKLT
Rabbit KDTDSEEEIREAFRVFDKDG NGYISAAELRHVMTNLGEKLT
Sheep KDTDSEEEIREAFRVFDKDG NGYISAAELRHVMTNLGEKLT
Chicken KDTDSEEEIREAFRVFDKDG NGYISAAELRHVMTNLGEKLT
Xenopus laevis KDTDSEEEIREAFRVFDKDG NGYISAAELRHVMTNLGEKLT
Zebrafish KDTDSEEEIREAFRVFDKDG NGYISAAELRHVMTNLGEKLT
Caenorhabditis elegans KDTDSEEEIREAFRVFDKDG NGFISAAELRHVMTNLGEKLT
Drosophila KDTDSEEEIREAFRVFDKDG NGFISAAELRHVMTNLGEKLT
Slime mold QDTDTEEEIREAFKVFDKDG NGYISAAELRHVMTSLGEKLT
Baker's yeast KSNDSEQELLEAFKVFDKNG DGLISAAELKHVLTSIGEKLT
Fission yeast KDTDNEEEVREAFKVFDKDG NGYITVEELTHVLTSLGERLS
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.
Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.
Nyegaard M.; Overgaard M.T.; Sondergaard M.T.; Vranas M.; Behr E.R.; Hildebrandt L.L.; Lund J.; Hedley P.L.; Camm A.J.; Wettrell G.; Fosdal I.; Christiansen M.; Borglum A.D.;
Am. J. Hum. Genet. 91:703-712(2012)
Cited for: VARIANTS CPVT4 ILE-54 AND SER-98; CHARACTERIZATION OF VARIANTS CPVT4 ILE-54 AND SER-98;
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.