Sequence information
Variant position: 569 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1159 The length of the canonical sequence.
Location on the sequence:
VLFLLMCTFALIAHWLACIW
Y AIGNMEQPHMDSRIGWLHNL
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 VLFLLMCTFALIAHWLACIWY AIGNMEQPHMDSRIGWLHNL
Mouse VLFLLMCTFALIAHWLACIWY AIGNMEQPHMDSHIGWLHNL
Rat VLFLLMCTFALIAHWLACIWY AIGNMEQPHMDSHIGWLHNL
Rabbit VLLLLMCTFALIAHWLACIWY AIGNMEQPHMDSRIGWLHNL
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 – 1159
Potassium voltage-gated channel subfamily H member 2
Topological domain
569 – 611
Extracellular
Literature citations
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.
Laitinen P.; Fodstad H.; Piippo K.; Swan H.; Toivonen L.; Viitasalo M.; Kaprio J.; Kontula K.;
Hum. Mutat. 15:580-581(2000)
Cited for: VARIANTS LQT2 TRP-176; LEU-451; HIS-569; SER-584; SER-601 AND MET-613; VARIANT THR-897;
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.