Sequence information
Variant position: 474 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:
VVDLIVDIMFIVDILINFRT
T YVNANEEVVSHPGRIAVHYF
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 VVDLIVDIMFIVDILINFRTT YVNANEEVVSHPGRIAVHYF
Mouse VVDLIVDIMFIVDILINFRTT YVNANEEVVSHPGRIAVHYF
Rat VVDLLVDIMFIVDILINFRTT YVNANEEVVSHPGRIAVHYF
Rabbit VVDLIVDIMFIVDILINFRTT YVNANEEVVSHPGRIAVHYF
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
472 – 495
Cytoplasmic
Literature citations
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
Tanaka T.; Nagai R.; Tomoike H.; Takata S.; Yano K.; Yabuta K.; Haneda N.; Nakano O.; Shibata A.; Sawayama T.; Kasai H.; Yazaki Y.; Nakamura Y.;
Circulation 95:565-567(1997)
Cited for: VARIANTS LQT2 ILE-474; HIS-611; VAL-614 AND LEU-630;
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.