Sequence information
Variant position: 1563 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:
LNMVTMMVETDDQSQEMTNI
L YWINLVFIVLFTGECVLKLI
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 LNMVTMMVETDDQSQEMTNIL YWINLVFIVLFTGECVLKLI
Mouse LNMVTMMVETDDQSQEMTNIL YWINLVFIVLFTGECVLKLI
Rat LNMVTMMVETDDQSQEMTNIL YWINLVFIVLFTGECVLKLI
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
Sodium-channel defects in benign familial neonatal-infantile seizures.
Heron S.E.; Crossland K.M.; Andermann E.; Phillips H.A.; Hall A.J.; Bleasel A.; Shevell M.; Mercho S.; Seni M.H.; Guiot M.C.; Mulley J.C.; Berkovic S.F.; Scheffer I.E.;
Lancet 360:851-852(2002)
Cited for: VARIANTS BFIS3 PHE-1330 AND VAL-1563;
Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.
Scalmani P.; Rusconi R.; Armatura E.; Zara F.; Avanzini G.; Franceschetti S.; Mantegazza M.;
J. Neurosci. 26:10100-10109(2006)
Cited for: CHARACTERIZATION OF VARIANTS BFIS3 GLN-223; GLN-1319; PHE-1330 AND VAL-1563; FUNCTION;
Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.
Misra S.N.; Kahlig K.M.; George A.L. Jr.;
Epilepsia 49:1535-1545(2008)
Cited for: CHARACTERIZATION OF VARIANTS BFIS3 GLN-1319; PHE-1330 AND VAL-1563;
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.
Berecki G.; Howell K.B.; Deerasooriya Y.H.; Cilio M.R.; Oliva M.K.; Kaplan D.; Scheffer I.E.; Berkovic S.F.; Petrou S.;
Proc. Natl. Acad. Sci. U.S.A. 115:E5516-E5525(2018)
Cited for: VARIANTS DEE11 GLN-853 AND GLN-1882; CHARACTERIZATION OF VARIANTS DEE11 GLN-853 AND GLN-1882; VARIANT BFIS3 VAL-1563; CHARACTERIZATION OF VARIANT BFIS3 VAL-1563; FUNCTION;
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.