Paralogue Annotation for RYR2 residue 3382

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3382
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3382

No paralogue variants have been mapped to residue 3382 for RYR2.

RYR2	ELLILDEFTTLARDLYAFYPLLIRFVDYNR>A<KWLKEPNPEAEELFRMVAEVFIYWSKSHNF	3412
RYR1	ELLVRDEFSVLCRDLYALYPLLIRYVDNNR>A<QWLTEPNPSAEELFRMVGEIFIYWSKSHNF	3451
RYR3	ELLILDEFAVLCRDLYAFYPMLIRYVDNNR>S<NWLKSPDADSDQLFRMVAEVFILWCKSHNF	3308
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3382T	c.10144G>A	Putative Benign		rs375897240	SIFT: tolerated Polyphen: possibly damaging