Variant position: 47 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 MSG-LARRSPRSSDGKLEALY VLMVLGFFGFFTLGIMLSYIR
Mouse VSG-LARKSQLRDDSKLEALY ILMVLGFFGFFTLGIMLSYI
Rat MSADLARRSQLRDDSKLEALY ILMVLGFFGFFTLGIMLSYI
Pig MSADLARRSQLRDDSKLEALY ILMVLGFFGFFTLGIMLSYI
Rabbit SATSLARRGPLGDDGQMEALY ILMVLGFFGFFTLGIMLSYI
Cat TSG-LARRSPGGDDSQLEALY ILMVLGFFGFFTLGIMLSYI
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
44 – 66 Helical
28 – 28 S -> T. No measurable effect on assembly with KCNQ1 or cell surface expression of the KCNE1/KCNQ1 channel complex, and loss of glycosylation at N-5; when associated with Q-5. 50% reduction of cell surface expression of the KCNE1/KCNQ1 channel complex, and loss of glycosylation at N-5 and T-7; when associated with A-7.
46 – 71
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;
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.