Paralogue Annotation for RYR2 residue 79

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 79
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 79

No paralogue variants have been mapped to residue 79 for RYR2.

RYR2	LESTSNSKNVPPDLSICTFVLEQSLSVRAL>Q<EMLANTVEKSEGQVDVEKWKFMMKTAQGGG	109
RYR1	LEPTSNAQNVPPDLAICCFVLEQSLSVRAL>Q<EMLANTVEAG--V---E-------SSQGGG	96
RYR3	LEPTSEAKYIPPDLCVCNFVLEQSLSVRAL>Q<EMLANTGENG-GE---G-------AAQGGG	99
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q79K	c.235C>A	Putative Benign		rs368014180	SIFT: deleterious Polyphen: possibly damaging