Sequence information
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:
FVKILRYENEVLQLEEDERF
E GRVVWNGSRGTKDLQDLSIF
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 FVKILRYENEVLQLEEDERFE GRVVWNGSRGTKDLQDLSIF
FVKILRYENEVLQLEEDERFE GRVVWNGSRGTKDLQDLSIF
Chimpanzee FVKILRYENEVLQLEEDERFE GRVVWNGSRGTKDLQDLSIF
Mouse FVKILRYENEVLQLEEDERFE GRVVWNGSRGTKDLQDLSIF
Rat FVKILRYENEVLQLEEDERFE GRVVWNGSRGTKDLQDLSIF
Bovine FVKILRYENEVLQLEEDERFE GRVVWNGSRGTKDLQDLSIF
Rabbit FVKILRYENEVLQLEEDERFE GRVVWNGSRGTKDLQDLSIF
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
Chain
19 – 218
Sodium channel subunit beta-1
Topological domain
19 – 160
Extracellular
Domain
22 – 150
Ig-like C2-type
Glycosylation
93 – 93
N-linked (GlcNAc...) asparagine
Disulfide bond
40 – 121
Beta strand
87 – 92
Literature citations
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;
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.