Sequence information
Variant position: 1460 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1988 The length of the canonical sequence.
Location on the sequence:
FIIFGSFFTLNLFIGVIIDN
F NQQKKKLGGQDIFMTEEQKK
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 FIIFGSFFTLNLFIGVIIDNF NQQKKKLGGQDIFMTEEQKK
Mouse FIIFGSFFTLNLFIGVIIDNF NQQKKKLGGQDIFMTEEQKK
Rat FIIFGSFFTLNLFIGVIIDNF NQQKKKLGGQDIFMTEEQKK
Rabbit FIIFGSFFTLNLFIGVIIDNF NQQKKKLGGQDIFMTEEQKK
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.
Literature citations
Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.
Dib-Hajj S.D.; Rush A.M.; Cummins T.R.; Hisama F.M.; Novella S.; Tyrrell L.; Marshall L.; Waxman S.G.;
Brain 128:1847-1854(2005)
Cited for: VARIANT PERYTHM VAL-1460; CHARACTERIZATION OF VARIANT PERYTHM VAL-1460;
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.