Paralogue Annotation for RYR2 residue 3170

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3170
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3170

No paralogue variants have been mapped to residue 3170 for RYR2.

RYR2	LGTSKSIYVERQRSALGECLAAFAGAFPVA>F<LETHLDKHNIYSIYNTKSSRERAALSLPTN	3200
RYR1	LGTTKNTYVEKLRPALGECLARLAAAMPVA>F<LEPQLNEYNACSVYTTKSPRERAILGLPNS	3235
RYR3	LGTGKNIYVERQRPALGECLASLAAAIPVA>F<LEPTLNRYNPLSVFNTKTPRERSILGMPDT	3096
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F3170Y	c.9509T>A	Putative Benign		rs368617169	SIFT: tolerated Polyphen: probably damaging
p.F3170I	c.9508T>A	Putative Benign			SIFT: Polyphen: