UniProtKB/Swiss-Prot O43525: Variant p.Asn468Ser

Potassium voltage-gated channel subfamily KQT member 3
Gene: KCNQ3
Feedback?

Variant information Variant position:

468 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 468 (N468S, p.Asn468Ser). 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:

Has no statistically significant effect on the current or biophysical properties of the heteromeric channel. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs118192252 [ dbSNP | Ensembl ]

Sequence information Variant position:

468 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

872 The length of the canonical sequence.
Location on the sequence:

LNVDAIEESPSKEPKPVGLN N KERFRTAFRMKAYAFWQSSE 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                         LNVDAIEESPSKEPKPVGLNNKERFRTAFRMKAYAFWQSSE

Mouse                         LNVDAIEESPSKEPKPVGLNNKERFRTAFRMKAYAFWQSSE

Rat                           LNVDAIEESPSKEPKPVGLNNKERFRTAFRMKAYAFWQSSE

Bovine                        LNVDAIEESPSKEPKPVGSNNKERFRTAFRMKAYAFWQSSE

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 – 872	Potassium voltage-gated channel subfamily KQT member 3
Topological domain	352 – 872	Cytoplasmic
Region	356 – 537	Mediates interaction with calmodulin

Literature citations
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.
Singh N.A.; Westenskow P.; Charlier C.; Pappas C.; Leslie J.; Dillon J.; Anderson V.E.; Sanguinetti M.C.; Leppert M.F.;
Brain 126:2726-2737(2003)
Cited for: VARIANTS BFNS2 GLY-305 AND VAL-310; CHARACTERIZATION OF VARIANT BFNS2 GLY-305; VARIANT SER-468; CHARACTERIZATION OF VARIANT SER-468; FUNCTION;

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.