Paralogue Annotation for RYR2 residue 2271

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2271
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2271

No paralogue variants have been mapped to residue 2271 for RYR2.

RYR2	DVAAASVMDNNELALALREPDLEKVVRYLA>G<CGLQSCQMLVSKGYPDIGWNPVEGERYLDF	2301
RYR1	DVAAASVIDNNELALALQEQDLEKVVSYLA>G<CGLQSCPMLVAKGYPDIGWNPCGGERYLDF	2334
RYR3	DVAASSVMDNNELALSLEEPDLEKVVTYLA>G<CGLQSCPMLLAKGYPDVGWNPIEGERYLSF	2198
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2271C	c.6811G>T	Putative Benign		rs375371340	SIFT: deleterious Polyphen: probably damaging
p.G2271S	c.6811G>A	Putative Benign			SIFT: Polyphen: