Variant position: 1475 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1980 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 TLNLFIGVIIDNFNQQKKKF GGQDIFMTEEQKKYYNAMKKL
Mouse TLNLFIGVIIDNFNQQKKKF GGQDIFMTEEQKKYYNAMKKL
Rat TLNLFIGVIIDNFNQQKKKF GGQDIFMTEEQKKYYNAMKKL
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 – 1980 Sodium channel protein type 8 subunit alpha
1461 – 1523 Cytoplasmic
1180 – 1495 III
1284 – 1980 Missing. In isoform 4.
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.
Wang J.; Gao H.; Bao X.; Zhang Q.; Li J.; Wei L.; Wu X.; Chen Y.; Yu S.;
BMC Med. Genet. 18:104-104(2017)
Cited for: VARIANTS DEE13 PRO-232; GLU-850; MET-891; ARG-1475; ALA-1598; TRP-1872 AND SER-1877;
Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.
Parrini E.; Marini C.; Mei D.; Galuppi A.; Cellini E.; Pucatti D.; Chiti L.; Rutigliano D.; Bianchini C.; Virdo S.; De Vita D.; Bigoni S.; Barba C.; Mari F.; Montomoli M.; Pisano T.; Rosati A.; Guerrini R.;
Hum. Mutat. 38:216-225(2017)
Cited for: VARIANTS DEE13 SER-307; GLY-978; ARG-1475; THR-1650 AND TRP-1872; VARIANT SER-1877;
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.