Paralogue Annotation for RYR2 residue 3583

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3583
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3583

No paralogue variants have been mapped to residue 3583 for RYR2.

RYR2	IANVLFHLEQKSKRVGRRHYCL-VEHPQRS>K<KAVWHKLLSKQRKRAVVACFRMAPLYNLPR	3613
RYR1	-----------QEVSAVLYYLDQTEHPYKS>K<KAVWHKLLSKQRRRAVVACFRMTPLYNLPT	3646
RYR3	-----------QRISAAVFHLEQVEQPLRS>K<KAVWHKLLSKQRKRAVVACFRMAPLYNLPR	3501
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K3583Q	c.10747A>C	Putative Benign			SIFT: Polyphen: