Variant position: 228 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1988 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 GNVSALRTFRVLRALKTISV IPGLKTIVGALIQSVKKLSDV
Mouse GNVSALRTFRVLRALKTISV IPGLKTIVGALIQSVKKLSDV
Rat GNVSALRTFRVLRALKTISV IPGLKTIVGALIQSVKKLSDV
Rabbit GNVSALRTFRVLRALKTISV IPGLKTIVGALIQSVKKLSDV
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 – 1988 Sodium channel protein type 9 subunit alpha
212 – 228 Helical; Name=S4 of repeat I
112 – 410 I
209 – 209 N-linked (GlcNAc...) asparagine
200 – 229 YLTEFVNLGNVSALRTFRVLRALKTISVIP -> YVTEFVDLGNVSALRTFRVLRALKTISVIP. In isoform 2 and isoform 4.
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
Singh N.A.; Pappas C.; Dahle E.J.; Claes L.R.; Pruess T.H.; De Jonghe P.; Thompson J.; Dixon M.; Gurnett C.; Peiffer A.; White H.S.; Filloux F.; Leppert M.F.;
PLoS Genet. 5:E1000649-E1000649(2009)
Cited for: VARIANTS GEFS+7 TYR-641 AND ARG-666; VARIANTS FEB3B VAL-62 AND GLN-149; VARIANTS MET-228; ASN-490; LYS-519; MET-695; TYR-710; VAL-750; PHE-1134; GLN-1171 AND VAL-1278;
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.