Paralogue Annotation for RYR1 residue 2535

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2535
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2535

No paralogue variants have been mapped to residue 2535 for RYR1.

RYR1	FLDRVYGIENQDFLLHVLDVGFLPDMRAAA>S<LDTATFSTTEMALALNRYLCLAVLPLITKC	2565
RYR2	FLDRVYGIEVQDFLLHLLEVGFLPDLRAAA>S<LDTAALSATDMALALNRYLCTAVLPLLTRC	2531
RYR3	FLDRVYGIKDQTFLLHLLEVGFLPDLRASA>S<LDTVSLSTTEAALALNRYICSAVLPLLTRC	2428
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2535L	c.7604C>T	Putative Benign			SIFT: Polyphen: