Paralogue Annotation for RYR1 residue 4880

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4880
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4880

No paralogue variants have been mapped to residue 4880 for RYR1.

RYR1	YLYTVVAFNFFRKFYNKSEDEDEPDMKCDD>M<MTCYLFHMYVGVRAGGGIGDEIEDPAGDEY	4910
RYR2	YLYTVVAFNFFRKFYNKSEDGDTPDMKCDD>M<LTCYMFHMYVGVRAGGGIGDEIEDPAGDEY	4839
RYR3	YLYTVVAFNFFRKFYNKSEDDDEPDMKCDD>M<MTCYLFHMYVGVRAGGGIGDEIEDPAGDPY	4742
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M4880T	c.14639T>C	Other Myopathy		rs193922883	SIFT: Polyphen:
Reports		Other Myopathy		Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Anesthesiology. 2005 102(3):515-21. 15731587
p.Met4880Lys	c.14639T>A	Unknown			SIFT: Polyphen: