Variant position: 1330 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 ALRPLRALSRFEGMRVVVNA LLGAIPSIMNVLLVCLIFWLI
Mouse ALRPLRALSRFEGMRVVVNA LLGAIPSIMNVLLVCLIFWLI
Rat ALRPLRALSRFEGMRVVVNA LLGAIPSIMNVLLVCLIFWLI
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.
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.;
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.;
Cited for: CHARACTERIZATION OF VARIANTS BFIS3 GLN-1319; PHE-1330 AND VAL-1563;
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