Variant position: 939 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 CVCKIASDCQLPRWHMNDFF HSFLIVFRVLCGEWIETMWDC
Mouse CVCKIATDCKLPRWHMNDFF HSFLIVFRVLCGEWIETMWDC
Rat CVCKIATDCKLPRWHMNDFF HSFLIVFRVLCGEWIETMWDC
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
937 – 957 Pore-forming
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)
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
Claes L.; Ceulemans B.; Audenaert D.; Smets K.; Loefgren A.; Del-Favero J.; Ala-Mello S.; Basel-Vanagaite L.; Plecko B.; Raskin S.; Thiry P.; Wolf N.I.; Van Broeckhoven C.; De Jonghe P.;
Hum. Mutat. 21:615-621(2003)
Cited for: VARIANTS EIEE6 HIS-393; GLN-939; ARG-959; ARG-1434; SER-1661 AND GLU-1749;
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
Ohmori I.; Kahlig K.M.; Rhodes T.H.; Wang D.W.; George A.L. Jr.;
Cited for: CHARACTERIZATION OF VARIANTS EIEE6 GLU-177; SER-227; HIS-393; ASN-426; GLN-939; ARG-959; PHE-1289 DEL AND ILE-1909;
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.