Paralogue Annotation for RYR2 residue 2543

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2543
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2543

No paralogue variants have been mapped to residue 2543 for RYR2.

RYR2	ALALNRYLCTAVLPLLTRCAPLFAGTEHHA>S<LIDSLLHTVYRLSKGCSLTKAQRDSIEVCL	2573
RYR1	ALALNRYLCLAVLPLITKCAPLFAGTEHRA>I<MVDSMLHTVYRLSRGRSLTKAQRDVIEDCL	2607
RYR3	ALALNRYICSAVLPLLTRCAPLFAGTEHCT>S<LIDSTLQTIYRLSKGRSLTKAQRDTIEECL	2470
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2543F	c.7628C>T	Putative Benign			SIFT: Polyphen: