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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y6J6: Variant p.Ile57Thr

Potassium voltage-gated channel subfamily E member 2
Gene: KCNE2
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Variant information Variant position: help 57 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Isoleucine (I) to Threonine (T) at position 57 (I57T, p.Ile57Thr). 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: help Change from medium size and hydrophobic (I) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In LQT6; may affect KCNQ1/KCNE2 channel. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 57 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 123 The length of the canonical sequence.
Location on the sequence: help LQAKVDAENFYYVILYLMVM I GMFSFIIVAILVSTVKSKRR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LQAKVDAENFYYVILYLMVMIGMFSFIIVAILVSTVKSKRR

Mouse                         LQARVDAENFYYVILYLMVMIGMFSFIVVAILVSTVKSKRR

Rat                           LQARVDAENFYYVILYLMVMIGMFAFIVVAILVSTVKSKRR
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 123 Potassium voltage-gated channel subfamily E member 2
Transmembrane 49 – 69 Helical
Mutagenesis 75 – 75 K -> H. Increases tail current in KCNH2/KCNE2 channel.
Helix 46 – 74



Literature citations
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.
Abbott G.W.; Sesti F.; Splawski I.; Buck M.E.; Lehmann M.H.; Timothy K.W.; Keating M.T.; Goldstein S.A.N.;
Cell 97:175-187(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS LQT6 THR-54 AND THR-57; VARIANTS ALA-8 AND GLU-9; FUNCTION; CHARACTERIZATION OF VARIANTS LQT6 THR-54 AND THR-57; CHARACTERIZATION OF VARIANT GLU-9; INTERACTION WITH KCNH2; Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
Millat G.; Chevalier P.; Restier-Miron L.; Da Costa A.; Bouvagnet P.; Kugener B.; Fayol L.; Gonzalez Armengod C.; Oddou B.; Chanavat V.; Froidefond E.; Perraudin R.; Rousson R.; Rodriguez-Lafrasse C.;
Clin. Genet. 70:214-227(2006)
Cited for: VARIANTS LQT6 THR-57; LEU-60 AND TRP-77; VARIANT ALA-8; Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
Kapplinger J.D.; Tester D.J.; Salisbury B.A.; Carr J.L.; Harris-Kerr C.; Pollevick G.D.; Wilde A.A.; Ackerman M.J.;
Heart Rhythm 6:1297-1303(2009)
Cited for: VARIANTS LQT6 ILE-14; ASN-20; HIS-27; THR-54; THR-57; LEU-65; GLN-77 AND GLY-94;
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.