Paralogue Annotation for RYR1 residue 2814

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2814
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2814

No paralogue variants have been mapped to residue 2814 for RYR1.

RYR1	ELKTHPMLRPYKTFSEKDKEIYRWPIKESL>K<AMIAWEWTIEKAREGEEEK--TEKKKTRKI	2842
RYR2	SSKVQPLMKPYKLLSEKEKEIYRWPIKESL>K<TMLAWGWRIERTREGDSMALYNRTRRISQT	2810
RYR3	NVKTHPLIRPFKTLTEKEKEIYRWPARESL>K<TMLAVGWTVERTKEGEALVQQRENEKLRSV	2707
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K2814R	c.8441A>G	Putative Benign			SIFT: Polyphen: