Variant position: 103 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 EEEIREAFRVFDKDGNGYIS AAELRHVMTNLGEKLTDEEVD
Mouse EEEIREAFRVFDKDGNGYIS AAELRHVMTNLGEKLTDEEVD
Rat EEEIREAFRVFDKDGNGYIS AAELRHVMTNLGEKLTDEEVD
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-3
81 – 116 EF-hand 3
94 – 105 3
77 – 149 Necessary and sufficient for interaction with PCP4
95 – 95 N6-acetyllysine
100 – 100 Phosphotyrosine
102 – 102 Phosphoserine
111 – 111 Phosphothreonine
116 – 116 N6,N6,N6-trimethyllysine; alternate
116 – 116 N6-methyllysine; alternate
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.
Gomez-Hurtado N.; Boczek N.J.; Kryshtal D.O.; Johnson C.N.; Sun J.; Nitu F.R.; Cornea R.L.; Chazin W.J.; Calvert M.L.; Tester D.J.; Ackerman M.J.; Knollmann B.C.;
Circ. Arrhythm. Electrophysiol. 9:0-0(2016)
Cited for: VARIANT CPVT VAL-103; CHARACTERIZATION OF VARIANT CPVT VAL-103; INTERACTION WITH RYR2;
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.