Variant position: 1158 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 RALSRFEGMRVVVNALLGAI PSIMNVLLVCLIFWLIFSIMG
Mouse RALSRFEGMRVVVNALLGAI PSIMNVLLVCLIFWLIFSIMG
Rat RALSRFEGMRVVVNALLGAI PSIMNVLLVCLIFWLIFSIMG
Horse RALSRFEGMRVVVNALLGAI PSIMNVLLVCLIFWVIFSIMG
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.
Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.
Sugiura Y.; Aoki T.; Sugiyama Y.; Hida C.; Ogata M.; Yamamoto T.;
Cited for: VARIANT HOKPP2 SER-1158;
Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.
Webb J.; Cannon S.C.;
Cited for: VARIANT HOKPP2 SER-1158; CHARACTERIZATION OF VARIANT HOKPP2 SER-1158; FUNCTION; SUBCELLULAR LOCATION;
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