Paralogue Annotation for RYR2 residue 4016

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4016
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4016

No paralogue variants have been mapped to residue 4016 for RYR2.

RYR2	LEGNVVNGTIGKQMVDMLVESSNNVEMILK>F<FDMFLKLKDLTSSDTFKEYDPDGKGVISKR	4046
RYR1	LEGNVVNGMIARQMVDMLVESSSNVEMILK>F<FDMFLKLKDIVGSEAFQDYVTDPRGLISKK	4090
RYR3	LEGNVVNGTIGKQMVDTLVESSTNVEMILK>F<FDMFLKLKDLTSSDTFKEYDPDGKGIISKK	3942
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F4016Y	c.12047T>A	Putative Benign		rs375021201	SIFT: tolerated Polyphen: probably damaging