Paralogue Annotation for RYR2 residue 4546

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4546
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4546

No paralogue variants have been mapped to residue 4546 for RYR2.

RYR2	STSSVVEGKE------LPTRSSSENAK-VT>S<LDS-----SSHRIIAVHYVLEESSGYMEPT	4571
RYR1	SDSPPGEDDMEGSAAGDVSGAGSGGSSGW->G<LGAGEEAEGDEDENMVYYFLEESTGYMEPA	4643
RYR3	TEEPLEEETE------DVANLWN------->S<FND-----EEEEEAMVFFVLQESTGYMAPT	4476
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4546N	c.13637G>A	Putative Benign			SIFT: Polyphen: