Variant position: 524 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 RRKKKKQKEQSGEEEKNDRV RKSESEDSIRRKGFRFSLEGS
Mouse RRKKKKQKEQAGEEEKEDAV RKSASEDSIRKKGFRFSLEGS
Rat RRKKKKQKEQAGEEEKEDAV RKSASEDSIRKKGFQFSLEGS
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
423 – 759 Cytoplasmic
526 – 526 Phosphoserine
528 – 528 Phosphoserine
531 – 531 Phosphoserine
A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.
Sugawara T.; Tsurubuchi Y.; Agarwala K.L.; Ito M.; Fukuma G.; Mazaki-Miyazaki E.; Nagafuji H.; Noda M.; Imoto K.; Wada K.; Mitsudome A.; Kaneko S.; Montal M.; Nagata K.; Hirose S.; Yamakawa K.;
Proc. Natl. Acad. Sci. U.S.A. 98:6384-6389(2001)
Cited for: VARIANT BFIS3 TRP-188; CHARACTERIZATION OF VARIANT BFIS3 TRP-188; VARIANTS LYS-19 AND GLN-524;
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 EIEE11 LYS-1211 AND MET-1473; VARIANTS LYS-19; VAL-328; GLN-524 AND VAL-575; CHARACTERIZATION OF VARIANTS EIEE11 LYS-1211 AND MET-1473; CHARACTERIZATION OF VARIANT VAL-575;
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.