Paralogue Annotation for RYR1 residue 1009

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1009
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1009

No paralogue variants have been mapped to residue 1009 for RYR1.

RYR1	AQTTLVDRLAENGHNVWARDRVGQGWSYSA>V<QDIPARRNPRLVPYRLLDEATKRSNRDSLC	1039
RYR2	SQEAMVDKLAENAHNVWARDRIRQGWTYGI>Q<QDVKNRRNPRLVPYTLLDDRTKKSNKDSLR	1051
RYR3	PQEILVDKLAENAHNVWAKDRIKQGWTYGI>Q<QDLKNKRNPRLVPYALLDERTKKSNRDSLR	1038
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1009A	c.3026T>C	Putative Benign			SIFT: Polyphen: