Paralogue Annotation for RYR1 residue 4282

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4282
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4282

No paralogue variants have been mapped to residue 4282 for RYR1.

RYR1	EPEGEPETDEDEGAGAAEAGAEGAEEGAAG>L<EGTAATAAAGATARVVAAAGRALRGLSYRS	4312
RYR2	ESDLNERSANKEESEK-----ERPEEQGPR>M<AFFSILTVRSALFALRYNILTLMRMLSLKS	4263
RYR3	ESDSADRPEEEEEDEDSSYVLEIAGEEEED>G<SLEPASAFAMACASVKRNVTDFLKRATLKN	4164
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4282V	c.12844C>G	Other Disease Phenotype			SIFT: Polyphen:
Reports		Other Disease Phenotype		Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015 122(5):1033-46. doi: 10.1097/ALN.0000000000000610. 25658027