Variant position: 986 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2009 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 AMCLTVFMMVMVIGNLVVLN LFLALLLSSFSADNLAATDDD
Mouse AMCLTVFMMVMVIGNLVVLN LFLALLLSSFSADNLAATDDD
Rat AMCLTVFMMVMVIRNLVVLN LFLALLLSSFSADNLAATDDD
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 – 2009 Sodium channel protein type 1 subunit alpha
971 – 991 Helical; Name=S6 of repeat II
750 – 1022 II
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
Claes L.; Del-Favero J.; Ceulemans B.; Lagae L.; Van Broeckhoven C.; De Jonghe P.;
Am. J. Hum. Genet. 68:1327-1332(2001)
Cited for: VARIANT DRVT PHE-986;
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.
Lossin C.; Rhodes T.H.; Desai R.R.; Vanoye C.G.; Wang D.; Carniciu S.; Devinsky O.; George A.L. Jr.;
J. Neurosci. 23:11289-11295(2003)
Cited for: VARIANT GEFS+2 CYS-1657; CHARACTERIZATION OF VARIANTS GEFS+2 LEU-1353; MET-1656; CYS-1657 AND VAL-1685; CHARACTERIZATION OF VARIANT DRVT PHE-986;
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.