Paralogue Annotation for RYR2 residue 2652

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2652
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2652

No paralogue variants have been mapped to residue 2652 for RYR2.

RYR2	CLPGGWGNFGAASEEELHLSRKLFWGIFDA>L<SQKKYEQELFKLALPCLSAVAGALPPDYME	2682
RYR1	CLPTGWANFGVTSEEELHLTRKLFWGIFDS>L<AHKKYDPELYRMAMPCLCAIAGALPPDYVD	2716
RYR3	CLPSGWGSYGLAVEEELHLTEKLFWGIFDS>L<SHKKYDPDLFRMALPCLSAIAGALPPDYLD	2579
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2652P	c.7955T>C	Putative Benign			SIFT: Polyphen: