Paralogue Annotation for RYR1 residue 4645

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4645
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4645

No paralogue variants have been mapped to residue 4645 for RYR1.

RYR1	GAGEEAEGDEDENMVYYFLEESTGYMEPAL>R<CLSLLHTLVAFLCIIGYNCLKVPLVIFKRE	4675
RYR2	DS-----SSHRIIAVHYVLEESSGYMEPTL>R<ILAILHTVISFFCIIGYYCLKVPLVIFKRE	4603
RYR3	ND-----EEEEEAMVFFVLQESTGYMAPTL>R<ALAIIHTIISLVCVVGYYCLKVPLVVFKRE	4508
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4645Q	c.13934G>A	Other Myopathy		rs193922860	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
p.R4645W	c.13933C>T	Putative Benign		rs377667641	SIFT: deleterious Polyphen: