Variant position: 892 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2005 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 KIIGNSVGALGNLTLVLAII VFIFAVVGMQLFGKSYKECVC
Mouse KIIGNSVGALGNLTLVLAII VFIFAVVGMQLFGKSYKECVC
Rat KIIGNSVGALGNLTLVLAII VFIFAVVGMQLFGKSYKECVC
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 – 2005 Sodium channel protein type 2 subunit alpha
880 – 898 Helical; Name=S5 of repeat II
741 – 1013 II
909 – 909 Binds SCN2B; via carbonyl oxygen
910 – 910 Interchain; with SCN2B or SCN4B
910 – 910 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)
882 – 902
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
Berkovic S.F.; Heron S.E.; Giordano L.; Marini C.; Guerrini R.; Kaplan R.E.; Gambardella A.; Steinlein O.K.; Grinton B.E.; Dean J.T.; Bordo L.; Hodgson B.L.; Yamamoto T.; Mulley J.C.; Zara F.; Scheffer I.E.;
Ann. Neurol. 55:550-557(2004)
Cited for: VARIANTS BFIS3 GLN-223; ILE-892; ILE-1003 AND GLN-1319;
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