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UniProtKB/Swiss-Prot P15382: Variant p.Asp85Asn

Potassium voltage-gated channel subfamily E member 1
Gene: KCNE1
Variant information

Variant position:  85
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 Aspartate (D) to Asparagine (N) at position 85 (D85N, p.Asp85Asn).
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 (D) to medium size and polar (N)
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:  Predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential compared to the wild-type channel.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  85
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  129
The length of the canonical sequence.

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.







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.

Chain 1 – 129 Potassium voltage-gated channel subfamily E member 1
Topological domain 67 – 129 Cytoplasmic
Modified residue 102 – 102 Phosphoserine; by PKC
Mutagenesis 69 – 69 K -> H. Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel.
Turn 84 – 86

Literature citations

Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome.
Tesson F.; Donger C.; Denjoy I.; Berthet M.; Bennaceur M.; Petit C.; Coumel P.; Schwartz K.; Guicheney P.;
J. Mol. Cell. Cardiol. 28:2051-2055(1996)
Cited for: VARIANT ASN-85;

Compound mutations: a common cause of severe long-QT syndrome.
Westenskow P.; Splawski I.; Timothy K.W.; Keating M.T.; Sanguinetti M.C.;
Circulation 109:1834-1841(2004)
Cited for: VARIANT ASN-85;

The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss.
Van Laer L.; Carlsson P.-I.; Ottschytsch N.; Bondeson M.-L.; Konings A.; Vandevelde A.; Dieltjens N.; Fransen E.; Snyders D.; Borg E.; Raes A.; Van Camp G.;
Hum. Mutat. 27:786-795(2006)

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.