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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15382: Variant p.Asp76Asn

Potassium voltage-gated channel subfamily E member 1
Gene: KCNE1
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Variant information Variant position: help 76 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 Aspartate (D) to Asparagine (N) at position 76 (D76N, p.Asp76Asn). 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 acidic (D) to medium size and polar (N) 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 LQT5 and JLNS2; suppresses KCNQ1 currents markedly. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 76 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 129 The length of the canonical sequence.
Location on the sequence: help FFTLGIMLSYIRSKKLEHSN D PFNVYIESDAWQEKDKAYVQ 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                         FFTLGIMLSYIRSKKLEHSNDPFNVYIESDAWQEKDKAYVQ

Mouse                         FFTLGIMLSYIRSKKLEHSHDPFNVYIESDAWQEKGKAVFQ

Rat                           FFTLGIMLSYIRSKKLEHSHDPFNVYIESDAWQEKGKALFQ

Pig                           FFTLGIMLSYIRSKKLEHSHDPFNVYIESDAWQEKGKALFQ

Rabbit                        FFTLGIMLSYIRSQKLEHSHDPFNVYIEANDWQEKDRAYFQ

Cat                           FFTLGIMLSYIRSKKLEHSHDPFNVYIESDTWQEKDKAYLQ
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 – 129 Potassium voltage-gated channel subfamily E member 1
Topological domain 67 – 129 Cytoplasmic
Mutagenesis 69 – 69 K -> H. Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel.



Literature citations
KCNE1 mutations cause Jervell and Lange-Nielsen syndrome.
Schulze-Bahr E.; Wang Q.; Wedekind H.; Haverkamp W.; Chen Q.; Sun Y.; Rubie C.; Hordt M.; Towbin J.A.; Borggrefe M.; Assmann G.; Qu X.; Somberg J.C.; Breithardt G.; Oberti C.; Funke H.;
Nat. Genet. 17:267-268(1997)
Cited for: VARIANTS JLNS2 ILE-7 AND ASN-76; Mutations in the hminK gene cause long QT syndrome and suppress IKs function.
Splawski I.; Tristani-Firouzi M.; Lehmann M.H.; Sanguinetti M.C.; Keating M.T.;
Nat. Genet. 17:338-340(1997)
Cited for: VARIANTS LQT5 LEU-74 AND ASN-76; Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.
Duggal P.; Vesely M.R.; Wattanasirichaigoon D.; Villafane J.; Kaushik V.; Beggs A.H.;
Circulation 97:142-146(1998)
Cited for: VARIANT LQT5 ASN-76; Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.
Bianchi L.; Shen Z.; Dennis A.T.; Priori S.G.; Napolitano C.; Ronchetti E.; Bryskin R.; Schwartz P.J.; Brown A.M.;
Hum. Mol. Genet. 8:1499-1507(1999)
Cited for: VARIANTS JLNS2 PHE-47; HIS-51 AND ASN-76; VARIANT LQT5 ARG-87; 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 LQT5 VAL-8; MET-10; LEU-28; HIS-32; SER-55; PRO-58; PRO-59; CYS-67; HIS-67; MET-70; ASN-76; LYS-83 AND MET-125;
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.