Paralogue Annotation for RYR2 residue 2545

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2545
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2545

No paralogue variants have been mapped to residue 2545 for RYR2.

RYR2	ALNRYLCTAVLPLLTRCAPLFAGTEHHASL>I<DSLLHTVYRLSKGCSLTKAQRDSIEVCLLS	2575
RYR1	ALNRYLCLAVLPLITKCAPLFAGTEHRAIM>V<DSMLHTVYRLSRGRSLTKAQRDVIEDCLMS	2609
RYR3	ALNRYICSAVLPLLTRCAPLFAGTEHCTSL>I<DSTLQTIYRLSKGRSLTKAQRDTIEECLLA	2472
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2545T	c.7634T>C	Putative Benign			SIFT: Polyphen: