Sequence information
Variant position: 127 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:
YVVENHLAIEQPNTHLPETK
P SP
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 YVVENHLAIEQPNTHLPETKP SP
Mouse YVIENQAAVEQPATHLPELKP LS
Rat YVIENQAAVEQPATHLPELKP LS
Pig YAIENQAAVEQPATHLPELKP LS
Rabbit YVLENQLAVEHPDTHLPELKP SL
Cat YVIENQLAVERPNAHLPEIKP LS
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 – 129
Potassium voltage-gated channel subfamily E member 1
Topological domain
67 – 129
Cytoplasmic
Region
109 – 129
interaction with KCNQ1 C-terminus
Mutagenesis
109 – 129
Missing. Totally suppressed interaction with KCNQ1 C-terminus.
Literature citations
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I.; Shen J.; Timothy K.W.; Lehmann M.H.; Priori S.G.; Robinson J.L.; Moss A.J.; Schwartz P.J.; Towbin J.A.; Vincent G.M.; Keating M.T.;
Circulation 102:1178-1185(2000)
Cited for: VARIANTS LQT5 HIS-32; TRP-98 AND THR-127;
Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP(2).
Dvir M.; Strulovich R.; Sachyani D.; Ben-Tal Cohen I.; Haitin Y.; Dessauer C.; Pongs O.; Kass R.; Hirsch J.A.; Attali B.;
J. Cell Sci. 127:3943-3955(2014)
Cited for: CHARACTERIZATION OF VARIANTS LQT5 ILE-109 AND THR-127; MUTAGENESIS OF 109-VAL--PRO-129;
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.