Variant position: 87 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 FVKILRYENEVLQLEEDERF EGRVVWNGSRGTKDLQDLSIF
Chimpanzee FVKILRYENEVLQLEEDERF EGRVVWNGSRGTKDLQDLSIF
Mouse FVKILRYENEVLQLEEDERF EGRVVWNGSRGTKDLQDLSIF
Rat FVKILRYENEVLQLEEDERF EGRVVWNGSRGTKDLQDLSIF
Bovine FVKILRYENEVLQLEEDERF EGRVVWNGSRGTKDLQDLSIF
Rabbit FVKILRYENEVLQLEEDERF EGRVVWNGSRGTKDLQDLSIF
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
93 – 93 N-linked (GlcNAc...) asparagine
40 – 121
87 – 92
Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.
Watanabe H.; Koopmann T.T.; Le Scouarnec S.; Yang T.; Ingram C.R.; Schott J.J.; Demolombe S.; Probst V.; Anselme F.; Escande D.; Wiesfeld A.C.; Pfeufer A.; Kaab S.; Wichmann H.E.; Hasdemir C.; Aizawa Y.; Wilde A.A.; Roden D.M.; Bezzina C.R.;
J. Clin. Invest. 118:2260-2268(2008)
Cited for: INVOLVEMENT IN BRGDA5; VARIANT GLN-87; FUNCTION;
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