Paralogue Annotation for RYR1 residue 3427

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3427
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3427

No paralogue variants have been mapped to residue 3427 for RYR1.

RYR1	EFSVLCRDLYALYPLLIRYVDNNRAQWLTE>P<NPSAEELFRMVGEIFIYWSKSHNFKREEQN	3457
RYR2	EFTTLARDLYAFYPLLIRFVDYNRAKWLKE>P<NPEAEELFRMVAEVFIYWSKSHNFKREEQN	3418
RYR3	EFAVLCRDLYAFYPMLIRYVDNNRSNWLKS>P<DADSDQLFRMVAEVFILWCKSHNFKREEQN	3314
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P3427L	c.10280C>T	Putative Benign			SIFT: Polyphen: