Paralogue Annotation for RYR1 residue 1260

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1260
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1260

No paralogue variants have been mapped to residue 1260 for RYR1.

RYR1	QRPVTTWFSKGLPQFEPVPLEHPHYEVSRV>D<GTVDTPPCLRLTHRTWGSQNSLVEMLFLRL	1290
RYR2	NRDITMWLSKRLPQFLQVPSNHEHIEVTRI>D<GTIDSSPCLKVTQKSFGSQNSNTDIMFYRL	1304
RYR3	NRDVAMWFSKRLPTFVNVPKDHPHIEVMRI>D<GTMDSPPCLKVTHKTFGTQNSNADMIYCRL	1290
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1260E	c.3780C>G	Putative Benign			SIFT: Polyphen: