Paralogue Annotation for RYR2 residue 3498

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3498
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3498

No paralogue variants have been mapped to residue 3498 for RYR2.

RYR2	AALKRLLPIGLNICAPGDQELIALAKNRFS>L<KDTEDEVRDIIRSNIHLQGKLE-DPAIRWQ	3527
RYR1	ATLKKMLPIGLNMCAPTDQDLITLAKTRYA>L<KDTDEEVREFLHNNLHLQGKVEGSPSLRWQ	3572
RYR3	AALKKMLPIGLNMCTPGDQELISLAKSRYS>H<RDTDEEVREHLRNNLHLQEKSD-DPAVKWQ	3428
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3498V	c.10492C>G	Putative Benign			SIFT: tolerated Polyphen: benign