Variant position: 54 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 GTVMRSLGQNPTEAELQDMI NEVDADGNGTIDFPEFLTMMA
Mouse GTVMRSLGQNPTEAELQDMI NEVDADGNGTIDFPEFLTMMA
Rat GTVMRSLGQNPTEAELQDMI NEVDADGNGTIDFPEFLTMMA
Bovine GTVMRSLGQNPTEAELQDMI NEVDADGNGTIDFPEFLTMMA
Rabbit GTVMRSLGQNPTEAELQDMI NEVDADGNGTIDFPEFLTMMA
Sheep GTVMRSLGQNPTEAELQDMI NEVDADGNGTIDFPEFLTMMA
Chicken GTVMRSLGQNPTEAELQDMI NEVDADGNGTIDFPEFLTMMA
Xenopus laevis GTVMRSLGQNPTEAELQDMI NEVDADGNGTIDFPEFLTMMA
Zebrafish GTVMRSLGQNPTEAELQDMI NEVDADGNGTIDFPEFLTMMA
Caenorhabditis elegans GTVMRSLGQNPTEAELQDMI NEVDADGNGTIDFPEFLTMMA
Drosophila GTVMRSLGQNPTEAELQDMI NEVDADGNGTIDFPEFLTMMA
Slime mold GTVMRSLGQNPTEAELQDMI NEVDADGNGNIDFPEFLTMMA
Baker's yeast ATVMRSLGLSPSEAEVNDLM NEIDVDGNHQIEFSEFLALMS
Fission yeast GVVMRSLGQSPTAAELQDMI NEVDADGNGTIDFTEFLTMMA
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 – 149 Calmodulin
44 – 79 EF-hand 2
45 – 45 Phosphothreonine; by CaMK4
46 – 56
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.