Home  |  Contact

UniProtKB/Swiss-Prot P35499: Variant p.Arg1129Gln

Sodium channel protein type 4 subunit alpha
Gene: SCN4A
Variant information

Variant position:  1129
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Glutamine (Q) at position 1129 (R1129Q, p.Arg1129Gln).
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 basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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:  In NKPP and HOKPP2; detected in a family where three affected members manifested hypokalemic periodic paralysis whereas five other patients had normokalemic periodic paralysis.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1129
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1836
The length of the canonical sequence.

Location on the sequence:   IISLVANWLGYSELGPIKSL  R TLRALRPLRALSRFEGMRVV
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                         IISLVANWLGYSELGPIKSLRTLRALRPLRALSRFEGMRVV

Mouse                         IISLVANWLGYSELGPIKSLRTLRALRPLRALSRFEGMRVV

Rat                           IISLVANWLGYSELGPIKSLRTLRALRPLRALSRFEGMRVV

Horse                         IISLVANWLGYSELGPIKSLRTLRALRPLRALSRFEGMRVV

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.

TypePositionsDescription
Chain 1 – 1836 Sodium channel protein type 4 subunit alpha
Transmembrane 1124 – 1142 Helical; Name=S4 of repeat III
Repeat 1013 – 1326 III
Turn 1123 – 1129


Literature citations

Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.
Hong D.; Luan X.; Chen B.; Zheng R.; Zhang W.; Wang Z.; Yuan Y.;
J. Neurol. Neurosurg. Psych. 81:703-704(2010)
Cited for: VARIANT NKPP GLN-1129; VARIANT HOKPP2 GLN-1129;

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.