Variant position: 1161 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 AEAEPMNSDEPEACFTDGCV WRFSCCQVNIESGKGKIWWNI
Mouse AEAEPINADEPEACFTDGCV RRFPCCQVNIDSGKGKVWWTI
Rat AEAEPVNADEPEACFTDGCV RRFPCCQVNVDSGKGKVWWTI
Rabbit AEAEPVNSDEPEACFTDGCV RRFPCCQVSIESGKGKIWWNI
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
968 – 1193 Cytoplasmic
Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells.
Klugbauer N.; Lacinova L.; Flockerzi V.; Hofmann F.;
EMBO J. 14:1084-1090(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); FUNCTION IN VOLTAGE-EVOKED DEPOLARIZATION; SUBCELLULAR LOCATION; SUBUNIT; TISSUE SPECIFICITY; VARIANT ARG-1161;
An SCN9A channelopathy causes congenital inability to experience pain.
Cox J.J.; Reimann F.; Nicholas A.K.; Thornton G.; Roberts E.; Springell K.; Karbani G.; Jafri H.; Mannan J.; Raashid Y.; Al-Gazali L.; Hamamy H.; Valente E.M.; Gorman S.; Williams R.; McHale D.P.; Wood J.N.; Gribble F.M.; Woods C.G.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); INVOLVEMENT IN CONGENITAL INSENSITIVITY TO PAIN; FUNCTION; SUBCELLULAR LOCATION; SUBUNIT; VARIANT ARG-1161;
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;
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