Paralogue Annotation for RYR1 residue 4853

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4853
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4853

No paralogue variants have been mapped to residue 4853 for RYR1.

RYR1	TLRTILSSVTHNGKQLVMTVGLLAVVVYLY>T<VVAFNFFRKFYNKSEDEDEPDMKCDDMMTC	4883
RYR2	TLRTILSSVTHNGKQLVLTVGLLAVVVYLY>T<VVAFNFFRKFYNKSEDGDTPDMKCDDMLTC	4812
RYR3	TLRTILSSVTHNGKQLVLTVGLLAVVVYLY>T<VVAFNFFRKFYNKSEDDDEPDMKCDDMMTC	4715
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4853I	c.14558C>T	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		[Malignant hyperthermia--a hereditary and potentially life-threatening condition]. Tidsskr Nor Laegeforen. 2005 125(20):2792-4. 16244682
		Other Myopathy		Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscul Disord. 2013 23(3):195-205. doi: 10.1016/j.nmd.2013.01.004. 23394784