Variant position: 90 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 LTMMARKMKDTDSEEEIREA FRVFDKDGNGYISAAELRHVM
Mouse LTMMARKMKDTDSEEEIREA FRVFDKDGNGYISAAELRHVM
Rat LTMMARKMKDTDSEEEIREA FRVFDKDGNGYISAAELRHVM
Xenopus laevis LTMMARKMKDTDSEEEIREA FRVFDKDGNGYISAAELRHVM
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.
Altered RyR2 regulation by the calmodulin F90L mutation associated with idiopathic ventricular fibrillation and early sudden cardiac death.
Nomikos M.; Thanassoulas A.; Beck K.; Vassilakopoulou V.; Hu H.; Calver B.L.; Theodoridou M.; Kashir J.; Blayney L.; Livaniou E.; Rizkallah P.; Nounesis G.; Lai F.A.;
FEBS Lett. 588:2898-2902(2014)
Cited for: CHARACTERIZATION OF VARIANT LQT14 LEU-90;
A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.
Marsman R.F.; Barc J.; Beekman L.; Alders M.; Dooijes D.; van den Wijngaard A.; Ratbi I.; Sefiani A.; Bhuiyan Z.A.; Wilde A.A.; Bezzina C.R.;
J. Am. Coll. Cardiol. 63:259-266(2014)
Cited for: INVOLVEMENT IN LQT14; VARIANT LQT14 LEU-90;
Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current.
Yu C.C.; Ko J.S.; Ai T.; Tsai W.C.; Chen Z.; Rubart M.; Vatta M.; Everett T.H. IV; George A.L. Jr.; Chen P.S.;
Heart Rhythm 13:1716-1723(2016)
Cited for: VARIANTS CPVT4 ILE-54 AND SER-98; CHARACTERIZATION OF VARIANTS CPVT4 ILE-54 AND SER-98; VARIANTS LQT14 LEU-90 AND GLY-130; CHARACTERIZATION OF VARIANTS LQT14 LEU-90 AND GLY-130; FUNCTION;
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