UniProtKB/Swiss-Prot Q9Y6H6: Variant p.Arg83His

Potassium voltage-gated channel subfamily E member 3
Gene: KCNE3
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Variant information Variant position:

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

US 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 Histidine (H) at position 83 (R83H, p.Arg83His). 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 (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 some patients with periodic paralysis; uncertain significance; alters voltage dependence, lowers current and diminishes open probability in KCNC4/KCNE3 channel; lowers current in KCNQ1/KCNE3 channel. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs17215437 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

FVMFLFAVTVGSLILGYTRS R KVDKRSDPYHVYIKNRVSMI 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                         FVMFLFAVTVGSLILGYTRSRKVDKRSDPYHVYIKNRVSMI

Mouse                         FVMFLFAVTVGSLILGYTRSRKVDKRSDPYHVYIKNRVSMI

Rat                           FVMFLFAVTVGSLILGYTRSRKVDKRSDPYHVYIKNRVSMI

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 – 103	Potassium voltage-gated channel subfamily E member 3
Topological domain	79 – 103	Cytoplasmic
Mutagenesis	90 – 90	D -> N. Decreases current 4-fold in KCNH2/KCNE3 channel.

Literature citations
MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis.
Abbott G.W.; Butler M.H.; Bendahhou S.; Dalakas M.C.; Ptacek L.J.; Goldstein S.A.N.;
Cell 104:217-231(2001)
Cited for: ASSOCIATION WITH KCNC4; VARIANT HIS-83; A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis.
Dias Da Silva M.R.; Cerutti J.M.; Arnaldi L.A.T.; Maciel R.M.B.;
J. Clin. Endocrinol. Metab. 87:4881-4884(2002)
Cited for: VARIANT HIS-83; Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.
Sternberg D.; Tabti N.; Fournier E.; Hainque B.; Fontaine B.;
Neurology 61:857-859(2003)
Cited for: LACK OF ASSOCIATION OF VARIANT HIS-83 WITH PERIODIC PARALISIS; Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation.
Jurkat-Rott K.; Lehmann-Horn F.;
Neurology 62:1012-1015(2004)
Cited for: LACK OF ASSOCIATION OF VARIANT HIS-83 WITH PERIODIC PARALISIS;

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.