Variant position: 859 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 LLRVFKLAKSWPTLNMLIKI IGNSVGALGNLTLVLAIIVFI
Mouse LLRVFKLAKSWPTLNMLIKI IGNSVGALGNLTLVLAIIVFI
Rat LLRVFKLAKSWPTLNMLIKI IGNSVGALGNLTLVLAIIVFI
Rabbit LLRVFKLAKSWPTLNMLIKI IGNSVGPLGNLTLVLAIIVFI
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.
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.
Yang Y.; Wang Y.; Li S.; Xu Z.; Li H.; Ma L.; Fan J.; Bu D.; Liu B.; Fan Z.; Wu G.; Jin J.; Ding B.; Zhu X.; Shen Y.;
J. Med. Genet. 41:171-174(2004)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 840-958; VARIANTS PERYTHM THR-859 AND HIS-869;
Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.
Cummins T.R.; Dib-Hajj S.D.; Waxman S.G.;
J. Neurosci. 24:8232-8236(2004)
Cited for: CHARACTERIZATION OF VARIANTS PERYTHM THR-859 AND HIS-869; FUNCTION; SUBCELLULAR LOCATION;
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;
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.
Han C.; Dib-Hajj S.D.; Lin Z.; Li Y.; Eastman E.M.; Tyrrell L.; Cao X.; Yang Y.; Waxman S.G.;
Cited for: VARIANT PERYTHM ARG-10; CHARACTERIZATION OF VARIANTS PERYTHM ARG-10 AND THR-859; FUNCTION; SUBCELLULAR LOCATION;
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