UniProtKB/SwissProt variant VAR

Variant information

Variant position:

130

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 Aspartate (D) to Glycine (G) at position 130 (D130G, p.Asp130Gly).

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 (D) to glycine (G)

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.

Any additional useful information about the variant.

Sequence information

Variant position:

130

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:

MTNLGEKLTDEEVDEMIREA D IDGDGQVNYEEFVQMMTAK

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                         MTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK

Mouse                         MTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK

Rat                           MTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK

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
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	111 – 111	Phosphothreonine
Modified residue	116 – 116	N6,N6,N6-trimethyllysine; alternate
Modified residue	116 – 116	N6-methyllysine; alternate
Modified residue	139 – 139	Phosphotyrosine

Literature citations

CALM3 mutation associated with long QT syndrome.
Reed G.J.; Boczek N.J.; Etheridge S.P.; Ackerman M.J.;
Heart Rhythm 12:419-422(2015)
Cited for: INVOLVEMENT IN LQT16; VARIANT LQT16 GLY-130;

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)
Cited for: INVOLVEMENT IN LQT16; VARIANTS LQT16 GLY-130 AND LYS-141; CHARACTERIZATION OF VARIANT LQT16 LYS-141; FUNCTION;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P0DP25: Variant p.Asp130Gly