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:
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 IVFAYLTEFVNLGNVSALRT FRVLRALKTISVIPGLKTIVG
Mouse IVFAYLTEFVNLGNVSALRT FRVLRALKTISVIPGLKTIVG
Rat IVFAYLTEFVNLGNVSALRT FRVLRALKTISVIPGLKTIVG
Rabbit IVFAYLTEFVNLGNVSALRT FRVLRALKTISVIPGLKTIVG
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.
215 – 218
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.;
Cited for: CHARACTERIZATION OF VARIANT PERYTHM SER-216; FUNCTION; SUBCELLULAR LOCATION;
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.