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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21817: Variant p.Gly2434Arg

Ryanodine receptor 1
Gene: RYR1
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Variant information Variant position: help 2434
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 2434 (G2434R, p.Gly2434Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In MHS1; increases calcium-induced calcium release activity.
Other resources: help


Sequence information Variant position: help 2434
Protein sequence length: help 5038
Location on the sequence: help NRVHLGHAIMSFYAALIDLL G RCAPEMHLIQAGKGEALRIR
Residue conservation: help
Human                         NRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEALRIR

Mouse                         NRVHLGHAIMSFYAALIDLLGRCAPETHLIQAGKGEALRIR

Rat                           NRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEALRIR

Pig                           NRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEALRIR

Rabbit                        NRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEALRIR

Sequence annotation in neighborhood: help
TypePositionsDescription
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.