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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UI33: Variant p.Val1184Ala

Sodium channel protein type 11 subunit alpha
Gene: SCN11A
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Variant information Variant position: help 1184 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Valine (V) to Alanine (A) at position 1184 (V1184A, p.Val1184Ala). 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: help Change from medium size and hydrophobic (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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
Variant description: help In HSAN7; cold-aggravated peripheral pain seen in some patients; enhances the channel activity by shifting the voltage dependence of channel opening to hyperpolarized potentials thereby giving rise to hyperexcitability of nociceptors; causes hyperexcitability and reduced cold-sensitivity of dorsal root ganglion neurons. Any additional useful information about the variant.


Sequence information Variant position: help 1184 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1791 The length of the canonical sequence.
Location on the sequence: help MKVVVNALIGAIPAILNVLL V CLIFWLVFCILGVYFFSGKF 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         MKVVVNALIGAIPAILNVLLVCLIFWLVFCILGVYFFSGKF

Mouse                         MKVVVNALMSAIPAILNVLLVCLIFWLIFCILGVNFFSGKF

Rat                           MKVVVYALISAIPAILNVLLVCLIFWLVFCILGVNLFSGKF
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1791 Sodium channel protein type 11 subunit alpha
Transmembrane 1181 – 1202 Helical; Name=S5 of repeat III
Repeat 1044 – 1339 III



Literature citations
Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.
Leipold E.; Hanson-Kahn A.; Frick M.; Gong P.; Bernstein J.A.; Voigt M.; Katona I.; Oliver Goral R.; Altmueller J.; Nuernberg P.; Weis J.; Huebner C.A.; Heinemann S.H.; Kurth I.;
Nat. Commun. 6:10049-10049(2015)
Cited for: VARIANT HSAN7 ALA-1184; CHARACTERIZATION OF VARIANTS HSAN7 PRO-811 AND ALA-1184; FUNCTION; TRANSPORTER ACTIVITY;
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.