Variant position: 261 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 676 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 VDRQGGTWRLLGSVVFIHRQ ELITTLYIGFLGLIFSSYFVY
Mouse VDRQGGTWRLLGSVVFIHRQ ELITTLYIGFLGLIFSSYFVY
Rat VDRQGGTWRLLGSVVFIHRQ ELITTLYIGFLGLIFSSYFVY
Rabbit VDRQGGTWRLLGSVVFIHRQ ELITTLYIGFLGLIFSSYFVY
Xenopus laevis VDRQGGTWRLLGSVVFIHRQ ELITTLYIGFLGLIFSSYFVY
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 – 676 Potassium voltage-gated channel subfamily KQT member 1
249 – 261 Cytoplasmic
259 – 284
Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.
Franqueza L.; Lin M.; Shen J.; Keating M.T.; Sanguinetti M.C.;
J. Biol. Chem. 274:21063-21070(1999)
Cited for: CHARACTERIZATION OF VARIANTS LQT1 CYS-243; ARG-248 AND LYS-261;
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.