Paralogue Annotation for RYR2 residue 675

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 675
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 675

No paralogue variants have been mapped to residue 675 for RYR2.

RYR2	QTRLVNHVSSMRPNIFLGVSEGSAQYKKWY>Y<ELMVDHTEPFVTAEATHLRVGWASTEGYSP	705
RYR1	QTNLINYVTSIRPNIFVGRAEGTTQYSKWY>F<EVMVDEVTPFLTAQATHLRVGWALTEGYTP	693
RYR3	QTRLINDVTSIRPNIFLGVAEGSAQYKKWY>F<ELIIDQVDPFLTAEPTHLRVGWASSSGYAP	692
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y675C	c.2024A>G	Putative Benign			SIFT: Polyphen: