Paralogue Annotation for RYR2 residue 2600

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2600
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2600

No paralogue variants have been mapped to residue 2600 for RYR2.

RYR2	EVCLLSICGQLRPSMMQHLLRRLVFDVPLL>N<EHAKMPLKLLTNHYERCWKYYCLPGGWGNF	2630
RYR1	EDCLMSLCRYIRPSMLQHLLRRLVFDVPIL>N<EFAKMPLKLLTNHYERCWKYYCLPTGWANF	2664
RYR3	EECLLAICNHLRPSMLQQLLRRLVFDVPQL>N<EYCKMPLKLLTNHYEQCWKYYCLPSGWGSY	2527
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N2600D	c.7798A>G	Putative Benign			SIFT: Polyphen:
p.N2600K	c.7800T>A	Putative Benign			SIFT: Polyphen: