Variant position: 1451 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 QPKYEDNIYMYIYFVIFIIF GSFFTLNLFIGVIIDNFNQQK
Mouse QPDYEGNIYMYIYFVIFIIF GSFFTLNLFIGVIIDNFNQQK
Rat QPDYEGNIYMYIYFVIFIIF GSFFTLNLFIGVIIDNFNQQK
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
1439 – 1460 Helical; Name=S6 of repeat III
1180 – 1495 III
1284 – 1980 Missing. In isoform 4.
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
Blanchard M.G.; Willemsen M.H.; Walker J.B.; Dib-Hajj S.D.; Waxman S.G.; Jongmans M.C.; Kleefstra T.; van de Warrenburg B.P.; Praamstra P.; Nicolai J.; Yntema H.G.; Bindels R.J.; Meisler M.H.; Kamsteeg E.J.;
J. Med. Genet. 52:330-337(2015)
Cited for: VARIANTS EIEE13 ASN-58; LYS-984 AND SER-1451; CHARACTERIZATION OF VARIANTS EIEE13 ASN-58; LYS-984 AND SER-1451;
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.