Paralogue Annotation for RYR2 residue 3508

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3508
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3508

No paralogue variants have been mapped to residue 3508 for RYR2.

RYR2	LNICAPGDQELIALAKNRFSLKDTEDEVRD>I<IRSNIHLQGKLE-DPAIRWQMALYKDLPNR	3537
RYR1	LNMCAPTDQDLITLAKTRYALKDTDEEVRE>F<LHNNLHLQGKVEGSPSLRWQMALYRGVPGR	3582
RYR3	LNMCTPGDQELISLAKSRYSHRDTDEEVRE>H<LRNNLHLQEKSD-DPAVKWQLNLYKDVLK-	3437
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3508T	c.10523T>C	Putative Benign		rs115622575	SIFT: deleterious Polyphen: benign
p.I3508V	c.10522A>G	Putative Benign			SIFT: Polyphen: