Paralogue Annotation for RYR1 residue 4072

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4072
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4072

No paralogue variants have been mapped to residue 4072 for RYR1.

RYR1	QMVDMLVESSSNVEMILKFFDMFLKLKDIV>G<SEAFQDYVTDPRGLISKKDFQKAMDSQKQF	4102
RYR2	QMVDMLVESSNNVEMILKFFDMFLKLKDLT>S<SDTFKEYDPDGKGVISKRDFHKAMESHKHY	4058
RYR3	QMVDTLVESSTNVEMILKFFDMFLKLKDLT>S<SDTFKEYDPDGKGIISKKEFQKAMEGQKQY	3954
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4072C	c.12214G>T	Putative Benign			SIFT: Polyphen: