UniProtKB/SwissProt variant VAR

Variant information

Variant position:

884

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

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Glutamate (E) to Lysine (K) at position 884 (E884K, p.Glu884Lys).

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

Involvement in disease:

Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (PNKD3) [MIM:609446]: An autosomal dominant neurologic disorder characterized by absence seizures, generalized tonic-clonic seizures, paroxysmal nonkinesigenic dyskinesia and involuntary dystonic or choreiform movements. Onset is usually in childhood. Patients may have seizures only, dyskinesia only, or both. {ECO:0000269|PubMed:15937479, ECO:0000269|PubMed:26195193}. Note=The disease is caused by mutations affecting the gene represented in this entry.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In PNKD3.

Any additional useful information about the variant.

Sequence information

Variant position:

884

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

Protein sequence length:

1236

The length of the canonical sequence.

Location on the sequence:

LRASNFHYHELKHIVFVGSI E YLKREWETLHNFPKVSILPG

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                         LRASNFHYHELKHIVFVGSIEYLKREWETLHNFPKVSILPG

Mouse                         LRASNFHYHELKHIVFVGSIEYLKREWETLHNFPKVSILPG

Rat                           LRASNFHYHELKHIVFVGSIEYLKREWETLHNFPKVSILPG

Bovine                        LRASNFHYHELKHIVFVGSIEYLKREWETLHNFPKVSILPG

Rabbit                        LRASNFHYHELKHIVFVGSIEYLKREWETLHNFPKVSILPG

Chicken                       LRASNFHYHELKHIVFVGSLEYLRREWETLHNFPKVSILPG

Xenopus laevis                LRASNFHYHELKHIVFVGSLDYIKREWETLHNFPKVSILPG

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	1 – 1236	Calcium-activated potassium channel subunit alpha-1
Topological domain	389 – 1236	Cytoplasmic
Alternative sequence	169 – 1236	Missing. In isoform 6.
Helix	883 – 893

Literature citations

De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay.
Zhang Z.B.; Tian M.Q.; Gao K.; Jiang Y.W.; Wu Y.;
Mov. Disord. 30:1290-1292(2015)
Cited for: INVOLVEMENT IN PNKD3; VARIANTS PNKD3 LYS-884 AND SER-1053;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12791: Variant p.Glu884Lys