Paralogue Annotation for RYR1 residue 4684

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4684
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4684

No paralogue variants have been mapped to residue 4684 for RYR1.

RYR1	VAFLCIIGYNCLKVPLVIFKREKELARKLE>F<DGLYITEQPEDDDVKGQWDRLVLNTPSFPS	4714
RYR2	ISFFCIIGYYCLKVPLVIFKREKEVARKLE>F<DGLYITEQPSEDDIKGQWDRLVINTQSFPN	4642
RYR3	ISLVCVVGYYCLKVPLVVFKREKEIARKLE>F<DGLYITEQPSEDDIKGQWDRLVINTPSFPN	4547
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F4684S	c.14051T>C	Other Myopathy		rs193922864	SIFT: Polyphen:
Reports		Other Myopathy		Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum Mutat. 2005 26(5):413-25. 16163667