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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21817: Variant p.Leu4824Pro

Ryanodine receptor 1
Gene: RYR1
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Variant information Variant position: help 4824
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 4824 (L4824P, p.Leu4824Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In MHS1.
Other resources: help


Sequence information Variant position: help 4824
Protein sequence length: help 5038
Location on the sequence: help HYNNFFFAAHLLDIAMGVKT L RTILSSVTHNGKQLVMTVGL
Residue conservation: help 
Human                         HYNNFFFAAHLLDIAMGVKTLRTILSSVTHNGKQLVMTVGL

Mouse                         HYNNFFFAAHLLDIAMGVKTLRTILSSVTHNGKQLVMTVGL

Rat                           HYNNFFFAAHLLDIAMGVKTLRTILSSVTHNGKQLVMTVGL

Pig                           HYNNFFFAAHLLDIAMGVKTLRTILSSVTHNGKQLVMTVGL

Rabbit                        HYNNFFFAAHLLDIAMGVKTLRTILSSVTHNGKQLVMTVGL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 5038 Ryanodine receptor 1
Topological domain 4804 – 4804 Lumenal
Topological domain 4822 – 4836 Cytoplasmic



Literature citations
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; 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 CMYO1A 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.