Paralogue Annotation for RYR1 residue 4820

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4820
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4820

No paralogue variants have been mapped to residue 4820 for RYR1.

RYR1	FLYLGWYMVMSLLGHYNNFFFAAHLLDIAM>G<VKTLRTILSSVTHNGKQLVMTVGLLAVVVY	4850
RYR2	FLYLAWYMTMSVLGHYNNFFFAAHLLDIAM>G<FKTLRTILSSVTHNGKQLVLTVGLLAVVVY	4779
RYR3	FLYLAWYTTMSVLGHYNNFFFAAHLLDIAM>G<FKTLRTILSSVTHNGKQLVLTVGLLAVVVY	4682
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4820W	c.14458G>T	Other Myopathy		rs193922873	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943