Paralogue Annotation for RYR2 residue 3519

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3519
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3519

No paralogue variants have been mapped to residue 3519 for RYR2.

RYR2	IALAKNRFSLKDTEDEVRDIIRSNIHLQGK>L<E-DPAIRWQMALYKDLPNRTDDTSDPEKTV	3548
RYR1	ITLAKTRYALKDTDEEVREFLHNNLHLQGK>V<EGSPSLRWQMALYRGVPGREEDADDPEKIV	3593
RYR3	ISLAKSRYSHRDTDEEVREHLRNNLHLQEK>S<D-DPAVKWQLNLYKDVLK-SEEPFNPEKTV	3448
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3519F	c.10557G>T	Putative Benign			SIFT: tolerated Polyphen: benign