Sequence information
Variant position: 216 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:
IVFAYLTEFVNLGNVSALRT
F RVLRALKTISVIPGLKTIVG
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 IVFAYLTEFVNLGNVSALRTF RVLRALKTISVIPGLKTIVG
Mouse IVFAYLTEFVNLGNVSALRTF RVLRALKTISVIPGLKTIVG
Rat IVFAYLTEFVNLGNVSALRTF RVLRALKTISVIPGLKTIVG
Rabbit IVFAYLTEFVNLGNVSALRTF RVLRALKTISVIPGLKTIVG
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
Chain
1 – 1988
Sodium channel protein type 9 subunit alpha
Transmembrane
212 – 228
Helical; Name=S4 of repeat I
Repeat
112 – 410
I
Glycosylation
209 – 209
N-linked (GlcNAc...) asparagine
Alternative sequence
200 – 229
YLTEFVNLGNVSALRTFRVLRALKTISVIP -> YVTEFVDLGNVSALRTFRVLRALKTISVIP. In isoform 2 and isoform 4.
Helix
215 – 218
Literature citations
SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.
Drenth J.P.; te Morsche R.H.; Guillet G.; Taieb A.; Kirby R.L.; Jansen J.B.;
J. Invest. Dermatol. 124:1333-1338(2005)
Cited for: VARIANTS PERYTHM SER-216; LYS-395; THR-859 AND PHE-869; VARIANT ARG-1161;
Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy.
Choi J.S.; Dib-Hajj S.D.; Waxman S.G.;
Neurology 67:1563-1567(2006)
Cited for: CHARACTERIZATION OF VARIANT PERYTHM SER-216; FUNCTION; SUBCELLULAR LOCATION;
Disclaimer:
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.