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:
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 SIFITNVTYNHSGDYECHVY RLLFFENYEHNTSVVKKIHIE
Chimpanzee SIFITNVTYNHSGDYECHVY RLLFFENYEHNTSVVKKIHIE
Mouse SIFITNVTYNHSGDYECHVY RLLFFDNYEHNTSVVKKIHLE
Rat SIFITNVTYNHSGDYECHVY RLLFFDNYEHNTSVVKKIHLE
Bovine SIFITNVTYNHSGDYECHVY RLLFFDNYEHNTSVVKKIHLE
Rabbit SIFITNVTYNHSGDYQCHVY RLLSFENYEHNTSVVKKIHLE
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
A functional null mutation of SCN1B in a patient with Dravet syndrome.
Patino G.A.; Claes L.R.; Lopez-Santiago L.F.; Slat E.A.; Dondeti R.S.; Chen C.; O'Malley H.A.; Gray C.B.; Miyazaki H.; Nukina N.; Oyama F.; De Jonghe P.; Isom L.L.;
J. Neurosci. 29:10764-10778(2009)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN DEE52; VARIANT DEE52 CYS-125; CHARACTERIZATION OF VARIANT DEE52 CYS-125;
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.