Paralogue Annotation for RYR2 residue 3604

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3604
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3604

No paralogue variants have been mapped to residue 3604 for RYR2.

RYR2	L-VEHPQRSKKAVWHKLLSKQRKRAVVACF>R<MAPLYNLPRHRAVNLFLQGYEKSWIETEEH	3634
RYR1	DQTEHPYKSKKAVWHKLLSKQRRRAVVACF>R<MTPLYNLPTHRACNMFLESYKAAWILTEDH	3667
RYR3	EQVEQPLRSKKAVWHKLLSKQRKRAVVACF>R<MAPLYNLPRHRSINLFLHGYQRFWIETEEY	3522
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3604L	c.10811G>T	Putative Benign		rs56228594	SIFT: deleterious Polyphen: probably damaging