Variant position: 1312 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 NALGYSELGAIKSLRTLRAL RPLRALSRFEGMRVVVNALLG
Mouse NALGYSELGAIKSLRTLRAL RPLRALSRFEGMRVVVNALLG
Rat NALGYSELGAIKSLRTLRAL RPLRALSRFEGMRVVVNALLG
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.
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
Shi X.; Yasumoto S.; Nakagawa E.; Fukasawa T.; Uchiya S.; Hirose S.;
Brain Dev. 31:758-762(2009)
Cited for: VARIANTS ASN-322 AND VAL-328; VARIANT DEE11 THR-1312;
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
Wang J.W.; Shi X.Y.; Kurahashi H.; Hwang S.K.; Ishii A.; Higurashi N.; Kaneko S.; Hirose S.;
Epilepsy Res. 102:195-200(2012)
Cited for: VARIANTS LYS-19; ASN-322; VAL-328 AND ASN-649; VARIANT DEE11 THR-1312;
Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.
Lossin C.; Shi X.; Rogawski M.A.; Hirose S.;
Neurobiol. Dis. 47:378-384(2012)
Cited for: CHARACTERIZATION OF VARIANT DEE11 THR-1312;
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.