Paralogue Annotation for RYR2 residue 1560

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1560
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1560

No paralogue variants have been mapped to residue 1560 for RYR2.

RYR2	YYQVEPSTKLFPAVFAQATSPNVFQFELGR>I<KNVMPLSAGLFKSEHKNPVPQCPPRLHVQF	1590
RYR1	FFQVEPNTKLFPAVFVLPTHQNVIQFELGK>Q<KNIMPLSAAMFQSERKNPAPQCPPRLEMQM	1598
RYR3	CYQVEPNTKVFPAVFLQPTSTSLFQFELGK>L<KNAMPLSAAIFRSEEKNPVPQCPPRLDVQT	1494
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1560T	c.4679T>C	Putative Benign		rs374338576	SIFT: tolerated Polyphen: possibly damaging