Paralogue Annotation for RYR2 residue 3148

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3148
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3148

No paralogue variants have been mapped to residue 3148 for RYR2.

RYR2	GEDLILEDVQVSCYRILTSLYALGTSKSIY>V<ERQRSALGECLAAFAGAFPVAFLETHLDKH	3178
RYR1	GDDVILDDVQVSCYRTLCSIYSLGTTKNTY>V<EKLRPALGECLARLAAAMPVAFLEPQLNEY	3213
RYR3	GMDLLLGDVQISCYHILCSLYSLGTGKNIY>V<ERQRPALGECLASLAAAIPVAFLEPTLNRY	3074
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V3148L	c.9442G>C	Putative Benign			SIFT: tolerated Polyphen: possibly damaging
p.Val3148Met	c.9442G>A	Unknown			SIFT: Polyphen: