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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21817: Variant p.Arg2452Trp

Ryanodine receptor 1
Gene: RYR1
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Variant information Variant position: help 2452 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 Tryptophan (W) at position 2452 (R2452W, p.Arg2452Trp). 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 large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In MHS1 and KDS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2452 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 5038 The length of the canonical sequence.
Location on the sequence: help LLGRCAPEMHLIQAGKGEAL R IRAILRSLVPLEDLVGIISL 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                         LLGRCAPEMHLIQAGKGEALRIRAILRSLVPLEDLVGIISL

Mouse                         LLGRCAPETHLIQAGKGEALRIRAILRSLVPLDDLVGIISL

Rat                           LLGRCAPEMHLIQAGKGEALRIRAILRSLVPLDDLVGIISL

Pig                           LLGRCAPEMHLIQAGKGEALRIRAILRSLVPLDDLVGIISL

Rabbit                        LLGRCAPEMHLIQAGKGEALRIRAILRSLVPLDDLVGIISL
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 – 5038 Ryanodine receptor 1
Topological domain 1 – 4559 Cytoplasmic
Region 841 – 2959 6 X approximate repeats



Literature citations
King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
Dowling J.J.; Lillis S.; Amburgey K.; Zhou H.; Al-Sarraj S.; Buk S.J.; Wraige E.; Chow G.; Abbs S.; Leber S.; Lachlan K.; Baralle D.; Taylor A.; Sewry C.; Muntoni F.; Jungbluth H.;
Neuromuscul. Disord. 21:420-427(2011)
Cited for: INVOLVEMENT IN KDS; VARIANTS KDS ARG-2206; TRP-2452 AND PHE-2776; Malignant hyperthermia in infancy and identification of novel RYR1 mutation.
Chamley D.; Pollock N.A.; Stowell K.M.; Brown R.L.;
Br. J. Anaesth. 84:500-504(2000)
Cited for: VARIANTS MHS1 TRP-2452 AND HIS-2454; Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.
Rueffert H.; Olthoff D.; Deutrich C.; Meinecke C.D.; Froster U.G.;
Acta Anaesthesiol. Scand. 46:692-698(2002)
Cited for: VARIANTS MHS1 CYS-163; ASN-166; ARG-341; HIS-401; CYS-614; GLU-2129; MET-2168; MET-2206; THR-2428; ARG-2434; HIS-2435; TRP-2452 AND HIS-2454; RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.
Shepherd S.; Ellis F.; Halsall J.; Hopkins P.; Robinson R.;
J. Med. Genet. 41:E33-E33(2004)
Cited for: VARIANTS CMYP1A GLY-160; ASP-4638; PHE-4814; HIS-4861 AND MET-4938; VARIANTS MHS1 CYS-614; MET-2346; GLY-2348; TRP-2452; HIS-2458; PRO-4824 AND GLU-4939;
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.