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:
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 LQDLSIFITNVTYNHSGDYE CHVYRLLFFENYEHNTSVVKK
Chimpanzee LQDLSIFITNVTYNHSGDYE CHVYRLLFFENYEHNTSVVKK
Mouse LQDLSIFITNVTYNHSGDYE CHVYRLLFFDNYEHNTSVVKK
Rat LQDLSIFITNVTYNHSGDYE CHVYRLLFFDNYEHNTSVVKK
Bovine LQDLSIFITNVTYNHSGDYE CHVYRLLFFDNYEHNTSVVKK
Rabbit LQDLSIFITNVTYNHSGDYQ CHVYRLLSFENYEHNTSVVKK
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
110 – 110 N-linked (GlcNAc...) asparagine
114 – 114 N-linked (GlcNAc...) asparagine
135 – 135 N-linked (GlcNAc...) asparagine
40 – 121
117 – 123
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;
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.