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UniProtKB/Swiss-Prot P0DP25: Variant p.Glu141Lys

Gene: CALM3
Variant information

Variant position:  141
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Glutamate (E) to Lysine (K) at position 141 (E141K, p.Glu141Lys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and acidic (E) to large size and basic (K)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In LQT16; loss-of-function variant causing impaired negative regulation of high voltage-gated calcium channel activity; impaired regulation of cardiac muscle cell action potential; decreased calcium ion binding.
Any additional useful information about the variant.

Sequence information

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:   EVDEMIREADIDGDGQVNYE  E FVQMMTAK
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.




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.

Chain 2 – 149 Calmodulin-3
Domain 117 – 149 EF-hand 4
Region 77 – 149 Necessary and sufficient for interaction with PCP4
Metal binding 130 – 130 Calcium 4
Metal binding 132 – 132 Calcium 4
Metal binding 134 – 134 Calcium 4
Metal binding 136 – 136 Calcium 4
Metal binding 141 – 141 Calcium 4
Modified residue 139 – 139 Phosphotyrosine
Helix 139 – 146

Literature citations

Genetic mosaicism in calmodulinopathy.
Wren L.M.; Jimenez-Jaimez J.; Al-Ghamdi S.; Al-Aama J.Y.; Bdeir A.; Al-Hassnan Z.N.; Kuan J.L.; Foo R.Y.; Potet F.; Johnson C.N.; Aziz M.C.; Carvill G.L.; Kaski J.P.; Crotti L.; Perin F.; Monserrat L.; Burridge P.W.; Schwartz P.J.; Chazin W.J.; Bhuiyan Z.A.; George A.L. Jr.;
Circ. Genom. Precis. Med. 12:375-385(2019)

Disclaimer: 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.