Paralogue Annotation for RYR2 residue 643

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 643
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 643

No paralogue variants have been mapped to residue 643 for RYR2.

RYR2	VLCSLCVCHGVAVRSNQHLICDNLLPGRDL>L<LQTRLVNHVSSMRPNIFLGVSEGSAQYKKW	673
RYR1	VLCSLCVCNGVAVRSNQDLITENLLPGREL>L<LQTNLINYVTSIRPNIFVGRAEGTTQYSKW	661
RYR3	ILCSLCLCNGVAVRANQNLICDNLLPRRNL>L<LQTRLINDVTSIRPNIFLGVAEGSAQYKKW	660
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L643I	c.1927T>A	Putative Benign			SIFT: Polyphen: