Paralogue Annotation for RYR2 residue 60

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 60
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 60

No paralogue variants have been mapped to residue 60 for RYR2.

RYR2	KEQQKLCLAAEGFGNRLCFLESTSNSKNVP>P<DLSICTFVLEQSLSVRALQEMLANTVEKSE	90
RYR1	KEQLKLCLAAEGFGNRLCFLEPTSNAQNVP>P<DLAICCFVLEQSLSVRALQEMLANTVEAG-	88
RYR3	KEQRKFCLAAEGLGNRLCFLEPTSEAKYIP>P<DLCVCNFVLEQSLSVRALQEMLANTGENG-	90
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P60S	c.178C>T	Putative Benign			SIFT: deleterious Polyphen: probably damaging