Paralogue Annotation for RYR2 residue 3482

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3482
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3482

No paralogue variants have been mapped to residue 3482 for RYR2.

RYR2	MKRKGDRYSMQTSLIVAALKRLLPIGLNIC>A<PGDQELIALAKNRFSLKDTEDEVRDIIRSN	3512
RYR1	KKRRGDRYSVQTSLIVATLKKMLPIGLNMC>A<PTDQDLITLAKTRYALKDTDEEVREFLHNN	3556
RYR3	TKRRGDLYSIQTSLIVAALKKMLPIGLNMC>T<PGDQELISLAKSRYSHRDTDEEVREHLRNN	3413
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3482T	c.10444G>A	Putative Benign			SIFT: Polyphen:
p.A3482S	c.10444G>T	Putative Benign			SIFT: Polyphen: