Paralogue Annotation for RYR1 residue 2642

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2642
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2642

No paralogue variants have been mapped to residue 2642 for RYR1.

RYR1	RYIRPSMLQHLLRRLVFDVPILNEFAKMPL>K<LLTNHYERCWKYYCLPTGWANFGVTSEEEL	2672
RYR2	GQLRPSMMQHLLRRLVFDVPLLNEHAKMPL>K<LLTNHYERCWKYYCLPGGWGNFGAASEEEL	2638
RYR3	NHLRPSMLQQLLRRLVFDVPQLNEYCKMPL>K<LLTNHYEQCWKYYCLPSGWGSYGLAVEEEL	2535
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K2642R	c.7925A>G	Putative Benign			SIFT: Polyphen: