Sequence information
Variant position: 121 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:
LQDLSIFITNVTYNHSGDYE
C HVYRLLFFENYEHNTSVVKK
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 LQDLSIFITNVTYNHSGDYEC HVYRLLFFENYEHNTSVVKK
LQDLSIFITNVTYNHSGDYEC HVYRLLFFENYEHNTSVVKK
Chimpanzee LQDLSIFITNVTYNHSGDYEC HVYRLLFFENYEHNTSVVKK
Mouse LQDLSIFITNVTYNHSGDYEC HVYRLLFFDNYEHNTSVVKK
Rat LQDLSIFITNVTYNHSGDYEC HVYRLLFFDNYEHNTSVVKK
Bovine LQDLSIFITNVTYNHSGDYEC HVYRLLFFDNYEHNTSVVKK
Rabbit LQDLSIFITNVTYNHSGDYQC HVYRLLSFENYEHNTSVVKK
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
Disulfide bond
40 – 121
Beta strand
117 – 123
Literature citations
Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B.
Wallace R.H.; Wang D.W.; Singh R.; Scheffer I.E.; George A.L. Jr.; Phillips H.A.; Saar K.; Reis A.; Johnson E.W.; Sutherland G.R.; Berkovic S.F.; Mulley J.C.;
Nat. Genet. 19:366-370(1998)
Cited for: VARIANT GEFS+1 TRP-121;
Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.
Rusconi R.; Scalmani P.; Cassulini R.R.; Giunti G.; Gambardella A.; Franceschetti S.; Annesi G.; Wanke E.; Mantegazza M.;
J. Neurosci. 27:11037-11046(2007)
Cited for: CHARACTERIZATION OF VARIANT GEFS+1 TRP-121; INTERACTION WITH SCN1A; SUBCELLULAR LOCATION;
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.