Variant position: 25 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 218 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 LALVVGAALVSSACGGCVEV DSETEAVYGMTFKILCISCKR
Chimpanzee LALVVGAALVSSACGGCVEV DSETEAVYGMTFKILCISCKR
Mouse LALVVGAALVSSAWGGCVEV DSDTEAVYGMTFKILCISCKR
Rat LALVVGAVLVSSAWGGCVEV DSETEAVYGMTFKILCISCKR
Bovine LAFVVGAALVSSAWGGCVEV DSETEAVYGMTFKILCISCKR
Rabbit LAFVVGAALVSSAWGGCVEV DSETEAVYGMTFKILCISCKR
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
19 – 218 Sodium channel subunit beta-1
19 – 160 Extracellular
22 – 150 Ig-like C2-type
21 – 43
A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel.
Baroni D.; Picco C.; Moran O.;
Hum. Mutat. 39:1402-1415(2018)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT ASN-25;
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
Orrico A.; Galli L.; Grosso S.; Buoni S.; Pianigiani R.; Balestri P.; Sorrentino V.;
Clin. Genet. 75:579-581(2009)
Cited for: VARIANTS ASN-25; ILE-138; ILE-208; TYR-211 AND ASP-213;
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