Variant position: 109 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 EKDKAYVQARVLESYRSCYV VENHLAIEQPNTHLPETKPSP
Mouse EKGKAVFQARVLESFRACYV IENQAAVEQPATHLPELKPLS
Rat EKGKALFQARVLESFRACYV IENQAAVEQPATHLPELKPLS
Pig EKGKALFQARVLESFRACYA IENQAAVEQPATHLPELKPLS
Rabbit EKDRAYFQARVLESCRGCYV LENQLAVEHPDTHLPELKPSL
Cat EKDKAYLQARVLESYKACYV IENQLAVERPNAHLPEIKPLS
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
109 – 129 interaction with KCNQ1 C-terminus
102 – 102 Phosphoserine; by PKC
109 – 129 Missing. Totally suppressed interaction with KCNQ1 C-terminus.
A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype.
Schulze-Bahr E.; Schwarz M.; Hauenschild S.; Wedekind H.; Funke H.; Haverkamp W.; Breithardt W.; Pongs O.; Isbrandt D.; Breithardt G.;
J. Mol. Med. 79:504-509(2001)
Cited for: VARIANT LQT5 ILE-109;
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;
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.