Variant position: 76 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 129 The length of the canonical sequence.
Location on the 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.
Human FFTLGIMLSYIRSKKLEHSN DPFNVYIESDAWQEKDKAYVQ
Mouse FFTLGIMLSYIRSKKLEHSH DPFNVYIESDAWQEKGKAVFQ
Rat FFTLGIMLSYIRSKKLEHSH DPFNVYIESDAWQEKGKALFQ
Pig FFTLGIMLSYIRSKKLEHSH DPFNVYIESDAWQEKGKALFQ
Rabbit FFTLGIMLSYIRSQKLEHSH DPFNVYIEANDWQEKDRAYFQ
Cat FFTLGIMLSYIRSKKLEHSH DPFNVYIESDTWQEKDKAYLQ
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
1 – 129 Potassium voltage-gated channel subfamily E member 1
67 – 129 Cytoplasmic
69 – 69 K -> H. Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel.
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.;
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;
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.