Paralogue Annotation for RYR2 residue 3593

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3593
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3593

No paralogue variants have been mapped to residue 3593 for RYR2.

RYR2	KSKRVGRRHYCL-VEHPQRSKKAVWHKLLS>K<QRKRAVVACFRMAPLYNLPRHRAVNLFLQG	3623
RYR1	-QEVSAVLYYLDQTEHPYKSKKAVWHKLLS>K<QRRRAVVACFRMTPLYNLPTHRACNMFLES	3656
RYR3	-QRISAAVFHLEQVEQPLRSKKAVWHKLLS>K<QRKRAVVACFRMAPLYNLPRHRSINLFLHG	3511
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K3593N	c.10779G>C	Putative Benign			SIFT: deleterious Polyphen: possibly damaging