UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1053

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 Asparagine (N) to Serine (S) at position 1053 (N1053S, p.Asn1053Ser).

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 polar (N) to small size and polar (S)

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 PNKD3 and EIG16; increased sensitivity to voltage-dependent activation resulting in increased channel activity; no change in calcium sensitivity.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs886039469 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1053

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:

ACGTAFAVSVLDSLMSATYF N DNILTLIRTLVTGGATPELE

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                         ACGTAFAVSVLDSLMSATYFNDNILTLIRTLVTGGATPELE

Mouse                         ACGTAFAVSVLDSLMSATYFNDNILTLIRTLVTGGATPELE

Rat                           ACGTAFAVSVLDSLMSATYFNDNILTLIRTLVTGGATPELE

Bovine                        ACGTAFAVSVLDSLMSATYFNDNILTLIRTLVTGGATPELE

Rabbit                        ACGTAFAVSVLDSLMSATYFNDNILTLIRTLVTGGATPELE

Chicken                       ACGTAFAVSVLDSLMSATYFNDNILTLIRTLVTGGATPELE

Xenopus laevis                ACGTAFAVSVLDSLMSATYFNDNILTLIRTLVTGGATPELE

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.

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;

De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.
Li X.; Poschmann S.; Chen Q.; Fazeli W.; Oundjian N.J.; Snoeijen-Schouwenaars F.M.; Fricke O.; Kamsteeg E.J.; Willemsen M.; Wang Q.K.;
Eur. J. Hum. Genet. 26:220-229(2018)
Cited for: FUNCTION; INVOLVEMENT IN EIG16; VARIANT EIG16 SER-1053; CHARACTERIZATION OF VARIANT EIG16 SER-1053; VARIANTS ASN-518; ALA-656 AND SER-1217; CHARACTERIZATION OF VARIANTS ASN-518; ALA-656 AND SER-1217;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12791: Variant p.Asn1053Ser