UniProtKB/Swiss-Prot P21817 : Variant p.Gly2434Arg
Ryanodine receptor 1
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Variant information
Variant position:
2434
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
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:
2434 (G2434R, p.Gly2434Arg).
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:
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
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).following page
Variant description:
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
2434
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
5038
The length of the canonical sequence.
Location on the sequence:
G RCAPEMHLIQAGKGEALRIR
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 NRVHLGHAIMSFYAALIDLLG RCAPEMHLIQAGKGEALRIR
Mouse NRVHLGHAIMSFYAALIDLLG RCAPETHLIQAGKGEALRIR
Rat NRVHLGHAIMSFYAALIDLLG RCAPEMHLIQAGKGEALRIR
Pig NRVHLGHAIMSFYAALIDLLG RCAPEMHLIQAGKGEALRIR
Rabbit NRVHLGHAIMSFYAALIDLLG RCAPEMHLIQAGKGEALRIR
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 – 5038 Ryanodine receptor 1
Topological domain
1 – 4559 Cytoplasmic
Region
841 – 2959 6 X approximate repeats
Literature citations
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.
Keating K.E.; Quane K.A.; Manning B.M.; Lehane M.; Hartung E.; Censier K.; Urwyler A.; Klausnitzer M.; Muller C.R.; Heffron J.J.A.; McCarthy T.V.;
Hum. Mol. Genet. 3:1855-1858(1994)
Cited for: VARIANT MHS1 ARG-2434;
The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.
Phillips M.S.; Khanna V.K.; de Leon S.; Frodis W.; Britt B.A.; McLennan D.H.;
Hum. Mol. Genet. 3:2181-2186(1994)
Cited for: VARIANT MHS1 ARG-2434;
North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.
Sambuughin N.; Sei Y.; Gallagher K.L.; Wyre H.W.; Madsen D.; Nelson T.E.; Fletcher J.E.; Rosenberg H.; Muldoon S.M.;
Anesthesiology 95:594-599(2001)
Cited for: VARIANTS MHS1 CYS-163; ARG-248; CYS-614; MET-2168; MET-2206; ILE-2214; THR-2367; ASN-2431; ARG-2434 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;
Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.
Galli L.; Orrico A.; Cozzolino S.; Pietrini V.; Tegazzin V.; Sorrentino V.;
Cell Calcium 32:143-151(2002)
Cited for: VARIANTS MHS1 CYS-163; CYS-401; HIS-2163; MET-2206; ILE-2280; ARG-2434; LEU-2435; CYS-2458; SER-4136; LEU-4234; TRP-4737; VAL-4942 AND LEU-4973;
Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene.
Sei Y.; Sambuughin N.N.; Davis E.J.; Sachs D.; Cuenca P.B.; Brandom B.W.; Tautz T.; Rosenberg H.; Nelson T.E.; Muldoon S.M.;
Anesthesiology 101:824-830(2004)
Cited for: VARIANTS MHS1 CYS-163; ARG-248; CYS-614; CYS-2163; MET-2168; MET-2206; ILE-2214; THR-2350; THR-2367; ASN-2431; ARG-2434; VAL-2437; HIS-2454 AND PRO-4824;
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
Monnier N.; Kozak-Ribbens G.; Krivosic-Horber R.; Nivoche Y.; Qi D.; Kraev N.; Loke J.; Sharma P.; Tegazzin V.; Figarella-Branger D.; Romero N.; Mezin P.; Bendahan D.; Payen J.-F.; Depret T.; Maclennan D.H.; Lunardi J.;
Hum. Mutat. 26:413-425(2005)
Cited for: VARIANTS MHS1 ARG-35; CYS-163; LEU-163; ARG-165; ASN-166; CYS-177; CYS-178; VAL-227; ARG-248; TRP-328; ARG-341; SER-401; HIS-401; MET-403; SER-522; TRP-552; CYS-614; LEU-614; CYS-2163; HIS-2163; MET-2168; MET-2206; ARG-2206; ASP-2344; MET-2346; THR-2350; THR-2428; ARG-2434; HIS-2435; CYS-2454; HIS-2454; CYS-2458; MET-3916; SER-4684; GLN-4737; TRP-4737; ILE-4826; VAL-4838; ILE-4849; ARG-4876; GLU-4939 AND LEU-4973; VARIANTS TRP-2676 AND SER-2787; CHARACTERIZATION OF VARIANTS MHS1 LEU-163; MET-2206; THR-2428; CYS-2454 AND HIS-2454; FUNCTION; TRANSPORTER ACTIVITY; ACTIVITY REGULATION;
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Brandom B.W.; Bina S.; Wong C.A.; Wallace T.; Visoiu M.; Isackson P.J.; Vladutiu G.D.; Sambuughin N.; Muldoon S.M.;
Anesth. Analg. 116:1078-1086(2013)
Cited for: VARIANTS MHS1 ALA-40; CYS-163; ARG-248; ARG-341; PRO-487; ALA-518; CYS-614; HIS-1043; HIS-2163; MET-2206; HIS-2248; HIS-2351; MET-2354; LEU-2358; GLN-2383; ARG-2434; HIS-2454; ARG-3711; VAL-4178; ARG-4230; GLU-4837; HIS-4861 AND GLY-4906; VARIANTS CMYO1A TRP-975; MET-2168 AND GLY-3238; VARIANTS MET-974; LEU-1109; ARG-1393; LEU-1787; CYS-2060 AND VAL-2321;
Genotype-phenotype correlations of malignant hyperthermia and central core disease mutations in the central region of the RYR1 channel.
Murayama T.; Kurebayashi N.; Ogawa H.; Yamazawa T.; Oyamada H.; Suzuki J.; Kanemaru K.; Oguchi K.; Iino M.; Sakurai T.;
Hum. Mutat. 37:1231-1241(2016)
Cited for: CHARACTERIZATION OF VARIANTS MHS1 CYS-2163; HIS-2163; MET-2168; MET-2206; THR-2350; ARG-2434; HIS-2435; CYS-2454; HIS-2454; CYS-2458; HIS-2458 AND HIS-2508; CHARACTERIZATION OF VARIANT CMYO1A CYS-2508; CHARACTERIZATION OF VARIANT ALA-2375 AND HIS-2508; 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.
