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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13698: Variant p.Arg1239His

Voltage-dependent L-type calcium channel subunit alpha-1S
Gene: CACNA1S
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Variant information Variant position: help 1239 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 Arginine (R) to Histidine (H) at position 1239 (R1239H, p.Arg1239His). 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 large size and basic (R) to medium size and polar (H) 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 HOKPP1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1239 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1873 The length of the canonical sequence.
Location on the sequence: help CGNVDPDESARISSAFFRLF R VMRLIKLLSRAEGVRTLLWT 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                         CGNVDPDESARISSAFFRLFRVMRLIKLLSRAEGVRTLLWT

Mouse                         CGNVDPDESARISSAFFRLFRVMRLVKLLNRAEGVRTLLWT

Rat                           CGNVDPDESARISSAFFRLFRVMRLIKLLSRAEGVRTLLWT

Rabbit                        CGNVDPDESARISSAFFRLFRVMRLIKLLSRAEGVRTLLWT

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 – 1873 Voltage-dependent L-type calcium channel subunit alpha-1S
Transmembrane 1232 – 1250 Helical; Name=S4 of repeat IV
Repeat 1105 – 1384 IV



Literature citations
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.
Ptacek L.J.; Tawil R.; Griggs R.C.; Engel A.G.; Layzer R.B.; Kwiecinski H.; McManis P.G.; Santiago L.; Moore M.; Fouad G.; Bradley P.; Leppert M.F.;
Cell 77:863-868(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1200-1300; VARIANTS HOKPP1 GLY-1239 AND HIS-1239; The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.
Kim J.-B.; Kim M.-H.; Lee S.J.; Kim D.-J.; Lee B.C.;
J. Korean Med. Sci. 22:946-951(2007)
Cited for: VARIANTS HOKPP1 HIS-528; HIS-1239 AND GLY-1239; Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
Houinato D.; Laleye A.; Adjien C.; Adjagba M.; Sternberg D.; Hilbert P.; Vallat J.M.; Darboux R.B.; Funalot B.; Avode D.G.;
Neuromuscul. Disord. 17:419-422(2007)
Cited for: VARIANT HOKPP1 HIS-1239; Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Matthews E.; Labrum R.; Sweeney M.G.; Sud R.; Haworth A.; Chinnery P.F.; Meola G.; Schorge S.; Kullmann D.M.; Davis M.B.; Hanna M.G.;
Neurology 72:1544-1547(2009)
Cited for: VARIANTS HOKPP1 GLY-528; HIS-528; SER-900; GLY-1239 AND HIS-1239;
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.