Variant position: 141 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 EVDEMIREADIDGDGQVNYE EFVQMMTAK
Mouse EVDEMIREADIDGDGQVNYE EFVQMMTAK
Rat EVDEMIREADIDGDGQVNYE EFVQMMTAK
Xenopus laevis EVDEMIREADIDGDGQVNYE EFVQMMTAK
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.
Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.
Boczek N.J.; Gomez-Hurtado N.; Ye D.; Calvert M.L.; Tester D.J.; Kryshtal D.O.; Hwang H.S.; Johnson C.N.; Chazin W.J.; Loporcaro C.G.; Shah M.; Papez A.L.; Lau Y.R.; Kanter R.; Knollmann B.C.; Ackerman M.J.;
Circ. Cardiovasc. Genet. 9:136-146(2016)
Cited for: VARIANTS LQT14 GLY-141 AND LEU-142; CHARACTERIZATION OF VARIANT LQT14 GLY-141; FUNCTION;
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.