Paralogue Annotation for RYR2 residue 3506

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3506
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3506

No paralogue variants have been mapped to residue 3506 for RYR2.

RYR2	IGLNICAPGDQELIALAKNRFSLKDTEDEV>R<DIIRSNIHLQGKLE-DPAIRWQMALYKDLP	3535
RYR1	IGLNMCAPTDQDLITLAKTRYALKDTDEEV>R<EFLHNNLHLQGKVEGSPSLRWQMALYRGVP	3580
RYR3	IGLNMCTPGDQELISLAKSRYSHRDTDEEV>R<EHLRNNLHLQEKSD-DPAVKWQLNLYKDVL	3436
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3506Q	c.10517G>A	Putative Benign			SIFT: Polyphen: