Variant position: 1473 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1836 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 ARIGRVLRLIRGAKGIRTLL FALMMSLPALFNIGLLLFLVM
Mouse ARIGRVLRLIRGAKGIRTLL FALMMSLPALFNIGLLLFLVM
Rat ARIGRVLRLIRGAKGIRTLL FALMMSLPALFNIGLLLFLVM
Horse ARIGRVLRLIRGAKGIRTLL FALMMSLPALFNIGLLLILVM
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.
Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.
Groome J.R.; Larsen M.F.; Coonts A.;
Cited for: CHARACTERIZATION OF VARIANTS PMC SER-1473 AND ILE-1705; FUNCTION; SUBCELLULAR LOCATION;
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.
Matthews E.; Tan S.V.; Fialho D.; Sweeney M.G.; Sud R.; Haworth A.; Stanley E.; Cea G.; Davis M.B.; Hanna M.G.;
Cited for: VARIANTS PMC LYS-270; MET-704; ALA-1306; GLU-1306; MET-1313; PRO-1436; CYS-1448; HIS-1448; LEU-1448; GLU-1456; SER-1473 AND MET-1589;
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