Sequence information
Variant position: 125 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:
SIFITNVTYNHSGDYECHVY
R LLFFENYEHNTSVVKKIHIE
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 SIFITNVTYNHSGDYECHVYR LLFFENYEHNTSVVKKIHIE
SIFITNVTYNHSGDYECHVYR LLFFENYEHNTSVVKKIHIE
Chimpanzee SIFITNVTYNHSGDYECHVYR LLFFENYEHNTSVVKKIHIE
Mouse SIFITNVTYNHSGDYECHVYR LLFFDNYEHNTSVVKKIHLE
Rat SIFITNVTYNHSGDYECHVYR LLFFDNYEHNTSVVKKIHLE
Bovine SIFITNVTYNHSGDYECHVYR LLFFDNYEHNTSVVKKIHLE
Rabbit SIFITNVTYNHSGDYQCHVYR LLSFENYEHNTSVVKKIHLE
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
110 – 110
N-linked (GlcNAc...) asparagine
Glycosylation
114 – 114
N-linked (GlcNAc...) asparagine
Glycosylation
135 – 135
N-linked (GlcNAc...) asparagine
Literature citations
New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures.
Fendri-Kriaa N.; Kammoun F.; Salem I.H.; Kifagi C.; Mkaouar-Rebai E.; Hsairi I.; Rebai A.; Triki C.; Fakhfakh F.;
Eur. J. Neurol. 18:695-702(2011)
Cited for: VARIANT GEFS+1 LEU-125;
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.