Paralogue Annotation for RYR2 residue 1333

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1333
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1333

No paralogue variants have been mapped to residue 1333 for RYR2.

RYR2	SMPIECAEVFSKTV-AGGLPGAGLFGPK-N>D<LEDYDADSDFEVLMKTAHGHLVPDRVDKDK	1363
RYR1	SLPVQFHQHFRCTAGATPLAPPGLQPPAED>E<ARAAEPDPDYENLRRSAGGWSEAENGKEGT	1351
RYR3	SMPVECHSSFSH------------------>-<------------------------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1333N	c.3997G>A	Putative Benign		rs368281275	SIFT: tolerated Polyphen: benign