Variant position: 357 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2000 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 CGNGSDAGQCPEGYICVKAG RNPNYGYTSFDTFSWAFLSLF
Mouse CGNGSDAGQCPEGYICVKAG RNPNYGYTSFDTFSWAFLSLF
Rat CGNGSDAGQCPEGYICVKAG RNPNYGYTSFDTFSWAFLSLF
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
1 – 2000 Sodium channel protein type 3 subunit alpha
270 – 368 Extracellular
110 – 455 I
339 – 339 N-linked (GlcNAc...) asparagine
Novel SCN3A variants associated with focal epilepsy in children.
Vanoye C.G.; Gurnett C.A.; Holland K.D.; George A.L. Jr.; Kearney J.A.;
Neurobiol. Dis. 62:313-322(2014)
Cited for: INVOLVEMENT IN FFEVF4; FUNCTION; VARIANTS FFEVF4 GLN-357; ASN-815; LYS-1160 AND VAL-1372;
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.