Sequence information
Variant position: 263 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: A LIGLQLFMGNLRNKCLQWPP
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 QSVKKLSDVMILTVFCLSVFA LIGLQLFMGNLRNKCLQWPP
Mouse QSVKKLSDVMILTVFCLSVFA LIGLQLFMGNLRNKCLQWPP
Rat QSVKKLSDVMILTVFCLSVFA LIGLQLFMGNLRNKCLQWPP
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
Chain
1 – 2005 Sodium channel protein type 2 subunit alpha
Transmembrane
251 – 270 Helical; Name=S5 of repeat I
Repeat
111 – 456 I
Literature citations
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.
Liao Y.; Anttonen A.K.; Liukkonen E.; Gaily E.; Maljevic S.; Schubert S.; Bellan-Koch A.; Petrou S.; Ahonen V.E.; Lerche H.; Lehesjoki A.E.;
Neurology 75:1454-1458(2010) Cited for: VARIANT EIEE11 VAL-263; CHARACTERIZATION OF VARIANT EIEE11 VAL-263;
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.
Touma M.; Joshi M.; Connolly M.C.; Grant P.E.; Hansen A.R.; Khwaja O.; Berry G.T.; Kinney H.C.; Poduri A.; Agrawal P.B.;
Epilepsia 54:E81-E85(2013) Cited for: VARIANT EIEE11 VAL-263;
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.
Schwarz N.; Hahn A.; Bast T.; Mueller S.; Loeffler H.; Maljevic S.; Gaily E.; Prehl I.; Biskup S.; Joensuu T.; Lehesjoki A.E.; Neubauer B.A.; Lerche H.; Hedrich U.B.;
J. Neurol. 263:334-343(2016) Cited for: VARIANTS VAL-263; ALA-1522 AND GLY-1882; CHARACTERIZATION OF VARIANTS ALA-1522 AND GLY-1882;
Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val.
Johannesen K.M.; Miranda M.J.; Lerche H.; Moeller R.S.;
J. Neurol. 263:1459-1460(2016) Cited for: VARIANT VAL-263;
Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.
Parrini E.; Marini C.; Mei D.; Galuppi A.; Cellini E.; Pucatti D.; Chiti L.; Rutigliano D.; Bianchini C.; Virdo S.; De Vita D.; Bigoni S.; Barba C.; Mari F.; Montomoli M.; Pisano T.; Rosati A.; Guerrini R.;
Hum. Mutat. 38:216-225(2017) Cited for: VARIANT GLY-191; VARIANTS EIEE11 ILE-251; VAL-263; VAL-896; VAL-1316; VAL-1323; TYR-1344; THR-1548 AND GLN-1882;
SCN2A p.Ala263Val Variant a Phenotype of Neonatal Seizures Followed by Paroxysmal Ataxia in Toddlers.
Gorman K.M.; King M.D.;
Pediatr. Neurol. 67:111-112(2017) Cited for: VARIANT VAL-263;
Disclaimer:
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.