Variant position: 959 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 HSFLIVFRVLCGEWIETMWD CMEVAGQAMCLTVFMMVMVIG
Mouse HSFLIVFRVLCGEWIETMWD CMEVAGQAMCLTVFMMVMVIG
Rat HSFLIVFRVLCGEWIETMWD CMEVAGQAMCLTVFMMVMVIR
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.
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;
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