UniProtKB/Swiss-Prot Q15858: Variant p.Trp1161Arg

Sodium channel protein type 9 subunit alpha
Gene: SCN9A
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Variant information Variant position:

1161 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Tryptophan (W) to Arginine (R) at position 1161 (W1161R, p.Trp1161Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and aromatic (W) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs6746030 [ dbSNP | Ensembl ]

Sequence information 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:

AEAEPMNSDEPEACFTDGCV W RFSCCQVNIESGKGKIWWNI 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                         AEAEPMNSDEPEACFTDGCVWRFSCCQVNIESGKGKIWWNI

Mouse                         AEAEPINADEPEACFTDGCVRRFPCCQVNIDSGKGKVWWTI

Rat                           AEAEPVNADEPEACFTDGCVRRFPCCQVNVDSGKGKVWWTI

Rabbit                        AEAEPVNSDEPEACFTDGCVRRFPCCQVSIESGKGKIWWNI

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
Topological domain	968 – 1187	Cytoplasmic

Literature citations
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; TRANSPORTER ACTIVITY; ACTIVITY REGULATION; 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.;
Nature 444:894-898(2006)
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;

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.