Paralogue Annotation for RYR2 residue 1330

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1330
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1330

No paralogue variants have been mapped to residue 1330 for RYR2.

RYR2	FYRLSMPIECAEVFSKTV-AGGLPGAGLFG>P<K-NDLEDYDADSDFEVLMKTAHGHLVPDRV	1359
RYR1	FLRLSLPVQFHQHFRCTAGATPLAPPGLQP>P<AEDEARAAEPDPDYENLRRSAGGWSEAENG	1347
RYR3	YCRLSMPVECHSSFSH-------------->-<------------------------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1330R	c.3989C>G	Putative Benign			SIFT: Polyphen: