Paralogue Annotation for RYR2 residue 2360

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2360
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2360

No paralogue variants have been mapped to residue 2360 for RYR2.

RYR2	CFGPALRGEGGNGLLAAMEEAIKIAEDPSR>D<GPSPNS-GSSKTLDTEEEEDDTIHMGNAIM	2389
RYR1	CFGPALRGEGGSGLLAAIEEAIRISEDPAR>D<GPGIRRDRRREHFGEEPPEENRVHLGHAIM	2423
RYR3	CFGPALRGEGGNGLLAAMQGAIKISENPAL>D<LPSQGY-KREVSTGDDEEEEEIVHMGNAIM	2286
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2360N	c.7078G>A	Putative Benign		rs373110998	SIFT: deleterious Polyphen: probably damaging