Variant position: 899 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2009 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 LIKIIGNSVGALGNLTLVLA IIVFIFAVVGMQLFGKSYKDC
Mouse LIKIIGNSVGALGNLTLVLA IIVFIFAVVGMQLFGKSYKDC
Rat LIKIIGNSVGALGNLTLVLA IIVFIFAVVGMQLFGKSYKDC
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 – 2009 Sodium channel protein type 1 subunit alpha
889 – 907 Helical; Name=S5 of repeat II
750 – 1022 II
919 – 919 Interchain; with SCN2B or SCN4B
919 – 919 Interchain; with the conotoxin GVIIJ (when the channel is not linked to SCN2B or SCN4B; the bond to SCN2B or SCN4B protects the channel from the inhibition by toxin)
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
Orrico A.; Galli L.; Grosso S.; Buoni S.; Pianigiani R.; Balestri P.; Sorrentino V.;
Clin. Genet. 75:579-581(2009)
Cited for: VARIANTS GLN-542 AND PHE-790; VARIANT FEB3A ASP-1308; VARIANT EIEE6 CYS-1648; VARIANTS GEFS+2 THR-899; ILE-976; ASN-1249 AND MET-1250; POSSIBLE INVOLVEMENT IN PANAYIOTOPOULOS SYNDROME;
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.