Paralogue Annotation for RYR2 residue 3422

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3422
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3422

No paralogue variants have been mapped to residue 3422 for RYR2.

RYR2	AEELFRMVAEVFIYWSKSHNFKREEQNFVV>Q<NEINNMSFLITDTKSKMSKAA-----VSDQ	3447
RYR1	AEELFRMVGEIFIYWSKSHNFKREEQNFVV>Q<NEINNMSFLTADNKSKMAKAGDIQSGGSDQ	3491
RYR3	SDQLFRMVAEVFILWCKSHNFKREEQNFVI>Q<NEINNLAFLTGDSKSKMSKAMQVKSGGQDQ	3348
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q3422H	c.10266G>C	Putative Benign		rs368064371	SIFT: deleterious Polyphen: probably damaging