Paralogue Annotation for RYR1 residue 3057

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3057
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3057

No paralogue variants have been mapped to residue 3057 for RYR1.

RYR1	SGGHASNKEKEMITSLFCKLAALVRHRVSL>F<GTDAPAVVNCLHILARSLDARTVMKSGPEI	3087
RYR2	SGGHASNKEKEMVTSLFCKLGVLVRHRISL>F<GNDATSIVNCLHILGQTLDARTVMKTGLES	3052
RYR3	SSGYASHKEKEMVAGLFCKLAALVRHRISL>F<GSDSTTMVSCLHILAQTLDTRTVMKSGSEL	2948
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F3057L	c.9169T>C	Putative Benign			SIFT: Polyphen:
p.F3057L	c.9171T>G	Putative Benign			SIFT: Polyphen: