Variant position: 1353 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 MRVVVNALLGAIPSIMNVLL VCLIFWLIFSIMGVNLFAGKF
Mouse MRVVVNALLGAIPSIMNVLL VCLIFWLIFSIMGVNLFAGKF
Rat MRVVVNALLGAIPSIMNVLL VCLIFWLIFSIMGVNLFAGKF
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
1347 – 1366 Helical; Name=S5 of repeat III
1200 – 1514 III
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
Wallace R.H.; Scheffer I.E.; Barnett S.; Richards M.; Dibbens L.; Desai R.R.; Lerman-Sagie T.; Lev D.; Mazarib A.; Brand N.; Ben-Zeev B.; Goikhman I.; Singh R.; Kremmidiotis G.; Gardner A.; Sutherland G.R.; George A.L. Jr.; Mulley J.C.; Berkovic S.F.;
Am. J. Hum. Genet. 68:859-865(2001)
Cited for: VARIANTS GEFS+2 VAL-188; LEU-1353 AND MET-1656; VARIANTS THR-1067 AND GLY-1928;
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 EIEE6 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.