Paralogue Annotation for RYR2 residue 1322

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1322
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1322

No paralogue variants have been mapped to residue 1322 for RYR2.

RYR2	QNSNTDIMFYRLSMPIECAEVFSKTV-AGG>L<PGAGLFGPK-NDLEDYDADSDFEVLMKTAH	1351
RYR1	QNSLVEMLFLRLSLPVQFHQHFRCTAGATP>L<APPGLQPPAEDEARAAEPDPDYENLRRSAG	1339
RYR3	QNSNADMIYCRLSMPVECHSSFSH------>-<------------------------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1322P	c.3965T>C	Putative Benign			SIFT: tolerated Polyphen: benign
p.Leu1322Ile	c.3964C>A	Unknown			SIFT: Polyphen: