Paralogue Annotation for RYR2 residue 3144

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3144
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3144

No paralogue variants have been mapped to residue 3144 for RYR2.

RYR2	QHQFGEDLILEDVQVSCYRILTSLYALGTS>K<SIYVERQRSALGECLAAFAGAFPVAFLETH	3174
RYR1	QHQFGDDVILDDVQVSCYRTLCSIYSLGTT>K<NTYVEKLRPALGECLARLAAAMPVAFLEPQ	3209
RYR3	QHQFGMDLLLGDVQISCYHILCSLYSLGTG>K<NIYVERQRPALGECLASLAAAIPVAFLEPT	3070
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K3144E	c.9430A>G	Putative Benign			SIFT: Polyphen: