Sequence information
Variant position: 53 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:
RSPRSSDGKLEALYVLMVLG
F FGFFTLGIMLSYIRSKKLEH
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 RSPRSSDGKLEALYVLMVLGF FGFFTLGIMLSYIRSKKLEH
Mouse KSQLRDDSKLEALYILMVLGF FGFFTLGIMLSYIRSKKLEH
Rat RSQLRDDSKLEALYILMVLGF FGFFTLGIMLSYIRSKKLEH
Pig RSQLRDDSKLEALYILMVLGF FGFFTLGIMLSYIRSKKLEH
Rabbit RGPLGDDGQMEALYILMVLGF FGFFTLGIMLSYIRSQKLEH
Cat RSPGGDDSQLEALYILMVLGF FGFFTLGIMLSYIRSKKLEH
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
Transmembrane
44 – 66
Helical
Mutagenesis
69 – 69
K -> H. Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel.
Helix
46 – 71
Literature citations
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
Napolitano C.; Priori S.G.; Schwartz P.J.; Bloise R.; Ronchetti E.; Nastoli J.; Bottelli G.; Cerrone M.; Leonardi S.;
JAMA 294:2975-2980(2005)
Cited for: VARIANTS LQT5 HIS-36 AND SER-53;
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.