Paralogue Annotation for RYR1 residue 2609

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2609
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2609

No paralogue variants have been mapped to residue 2609 for RYR1.

RYR1	VDSMLHTVYRLSRGRSLTKAQRDVIEDCLM>S<LCRYIRPSMLQHLLRRLVFDVPILNEFAKM	2639
RYR2	IDSLLHTVYRLSKGCSLTKAQRDSIEVCLL>S<ICGQLRPSMMQHLLRRLVFDVPLLNEHAKM	2605
RYR3	IDSTLQTIYRLSKGRSLTKAQRDTIEECLL>A<ICNHLRPSMLQQLLRRLVFDVPQLNEYCKM	2502
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2609L	c.7826C>T	Putative Benign			SIFT: Polyphen: