Paralogue Annotation for RYR2 residue 677

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 677
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 677

No paralogue variants have been mapped to residue 677 for RYR2.

RYR2	RLVNHVSSMRPNIFLGVSEGSAQYKKWYYE>L<MVDHTEPFVTAEATHLRVGWASTEGYSPYP	707
RYR1	NLINYVTSIRPNIFVGRAEGTTQYSKWYFE>V<MVDEVTPFLTAQATHLRVGWALTEGYTPYP	695
RYR3	RLINDVTSIRPNIFLGVAEGSAQYKKWYFE>L<IIDQVDPFLTAEPTHLRVGWASSSGYAPYP	694
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L677M	c.2029T>A	Putative Benign			SIFT: Polyphen: