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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21817: Variant p.His382Asn

Ryanodine receptor 1
Gene: RYR1
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Variant information Variant position: help 382
Type of variant: help LP/P [Disclaimer]
Residue change: help From Histidine (H) to Asparagine (N) at position 382 (H382N, p.His382Asn).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 1
Variant description: help In MHS1.
Other resources: help


Sequence information Variant position: help 382
Protein sequence length: help 5038
Location on the sequence: help DPKALRLGVLKKKAMLHQEG H MDDALSLTRCQQEESQAARM
Residue conservation: help 
Human                         DPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQAARM

Mouse                         DPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQAARM

Rat                           DPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQAARM

Pig                           DPKALRLGVLKKKAILHQEGHMDDALSLTRCQQEESQAARM

Rabbit                        DPKALRLGVLKKKAILHQEGHMDDALFLTRCQQEESQAARM
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 5038 Ryanodine receptor 1
Topological domain 1 – 4559 Cytoplasmic
Domain 335 – 392 MIR 5



Literature citations
Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.
Vukcevic M.; Broman M.; Islander G.; Bodelsson M.; Ranklev-Twetman E.; Muller C.R.; Treves S.;
Anesth. Analg. 111:185-190(2010)
Cited for: VARIANTS MHS1 ASN-382; LYS-1058 AND ARG-1393; VARIANT CMYO1A GLY-2508; VARIANT HIS-1679;
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.