Paralogue Annotation for RYR2 residue 3502

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3502
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3502

No paralogue variants have been mapped to residue 3502 for RYR2.

RYR2	RLLPIGLNICAPGDQELIALAKNRFSLKDT>E<DEVRDIIRSNIHLQGKLE-DPAIRWQMALY	3531
RYR1	KMLPIGLNMCAPTDQDLITLAKTRYALKDT>D<EEVREFLHNNLHLQGKVEGSPSLRWQMALY	3576
RYR3	KMLPIGLNMCTPGDQELISLAKSRYSHRDT>D<EEVREHLRNNLHLQEKSD-DPAVKWQLNLY	3432
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3502A	c.10505A>C	Putative Benign			SIFT: Polyphen: