UniProtKB/Swiss-Prot O43526: Variant p.Arg207Gln

Potassium voltage-gated channel subfamily KQT member 2
Gene: KCNQ2
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Variant information Variant position:

207 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 Arginine (R) to Glutamine (Q) at position 207 (R207Q, p.Arg207Gln). 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 large size and basic (R) to medium size and polar (Q) 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:

Found in a patient with isolated myokymia; leads to a shift of voltage-dependent activation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs118192200 [ dbSNP | Ensembl ]

Sequence information Variant position:

207 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:

SQGNVFATSALRSLRFLQIL R MIRMDRRGGTWKLLGSVVYA 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                         SQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYA

Mouse                         SQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYA

Rat                           SQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYA

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 2
Transmembrane	197 – 215	Helical; Voltage-sensor; Name=Segment S4
Binding site	214 – 214
Modified residue	217 – 217	Phosphothreonine
Mutagenesis	214 – 214	R -> A. No change in voltage activation of KNCQ2 channel.
Mutagenesis	217 – 217	T -> D. Abolishes currents without reducing channel protein expression.
Helix	196 – 210

Literature citations
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.
Wuttke T.V.; Jurkat-Rott K.; Paulus W.; Garncarek M.; Lehmann-Horn F.; Lerche H.;
Neurology 69:2045-2053(2007)
Cited for: VARIANT GLN-207; CHARACTERIZATION OF VARIANT GLN-207; ACTIVITY REGULATION;

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.