Variant position: 1211 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 GKLWWNLRKTCYKIVEHNWF ETFIVFMILLSSGALAFEDIY
Mouse GKLWWNLRKTCYKIVEHNWF ETFIVFMILLSSGALAFEDIY
Rat GKLWWNLRKTCYKIVEHNWF ETFIVFMILLSSGALAFEDIY
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 mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
Ogiwara I.; Ito K.; Sawaishi Y.; Osaka H.; Mazaki E.; Inoue I.; Montal M.; Hashikawa T.; Shike T.; Fujiwara T.; Inoue Y.; Kaneda M.; Yamakawa K.;
Cited for: VARIANTS DEE11 LYS-1211 AND MET-1473; VARIANTS LYS-19; VAL-328; GLN-524 AND VAL-575; CHARACTERIZATION OF VARIANTS DEE11 LYS-1211 AND MET-1473; CHARACTERIZATION OF VARIANT VAL-575;
SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.
Wong V.C.; Fung C.W.; Kwong A.K.;
Brain Dev. 37:729-732(2015)
Cited for: VARIANT DEE11 LYS-1211;
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