Paralogue Annotation for RYR2 residue 1600

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1600
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1600

No paralogue variants have been mapped to residue 1600 for RYR2.

RYR2	LFKSEHKNPVPQCPPRLHVQFLSHVLWSRM>P<NQFLKVDVSRISERQGWLVQCLDPLQFMSL	1630
RYR1	MFQSERKNPAPQCPPRLEMQMLMPVSWSRM>P<NHFLQVETRRAGERLGWAVQCQEPLTMMAL	1638
RYR3	IFRSEEKNPVPQCPPRLDVQTIQPVLWSRM>P<NSFLKVETERVSERHGWVVQCLEPLQMMAL	1534
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1600S	c.4798C>T	Putative Benign			SIFT: Polyphen:
p.P1600L	c.4799C>T	Putative Benign			SIFT: Polyphen: