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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21817: Variant p.Gly4897Ala

Ryanodine receptor 1
Gene: RYR1
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Variant information Variant position: help 4897
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Alanine (A) at position 4897 (G4897A, p.Gly4897Ala).
Physico-chemical properties: help Change from glycine (G) to small size and hydrophobic (A)
BLOSUM score: help 0
Variant description: help In CMYO1A.


Sequence information Variant position: help 4897
Protein sequence length: help 5038
Location on the sequence: help CDDMMTCYLFHMYVGVRAGG G IGDEIEDPAGDEYELYRVVF
Residue conservation: help 
Human                         CDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVF

Mouse                         CDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVF

Rat                           CDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVF

Pig                           CDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVF

Rabbit                        CDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 5038 Ryanodine receptor 1
Intramembrane 4881 – 4900 Pore-forming
Motif 4895 – 4901 Selectivity filter



Literature citations
Novel RYR1 missense mutations in six Chinese patients with central core disease.
Gu M.; Zhang S.; Hu J.; Yuan Y.; Wang Z.; Da Y.; Wu S.;
Neurosci. Lett. 566:32-35(2014)
Cited for: VARIANTS CMYO1A HIS-4861; ALA-4897 AND THR-4898;
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.