Sequence information
Variant position: 1342 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:
GMRVVVNALLGAIPSIMNVL
L VCLIFWLIFSIMGVNLFAGK
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 GMRVVVNALLGAIPSIMNVLL VCLIFWLIFSIMGVNLFAGK
Mouse GMRVVVNALLGAIPSIMNVLL VCLIFWLIFSIMGVNLFAGK
Rat GMRVVVNALLGAIPSIMNVLL VCLIFWLIFSIMGVNLFAGK
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.
Literature citations
Confirming an expanded spectrum of SCN2A mutations: a case series.
Matalon D.; Goldberg E.; Medne L.; Marsh E.D.;
Epileptic Disord. 16:13-18(2014)
Cited for: VARIANTS DEE11 LYS-132; GLY-430 AND PRO-1342;
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
Hackenberg A.; Baumer A.; Sticht H.; Schmitt B.; Kroell-Seger J.; Wille D.; Joset P.; Papuc S.; Rauch A.; Plecko B.;
Neuropediatrics 45:261-264(2014)
Cited for: VARIANT DEE11 PRO-1342;
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
Dimassi S.; Labalme A.; Ville D.; Calender A.; Mignot C.; Boutry-Kryza N.; de Bellescize J.; Rivier-Ringenbach C.; Bourel-Ponchel E.; Cheillan D.; Simonet T.; Maincent K.; Rossi M.; Till M.; Mougou-Zerelli S.; Edery P.; Saad A.; Heron D.; des Portes V.; Sanlaville D.; Lesca G.;
Clin. Genet. 89:198-204(2016)
Cited for: VARIANT DEE11 PRO-1342;
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.