Paralogue Annotation for RYR1 residue 4363

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4363
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4363

No paralogue variants have been mapped to residue 4363 for RYR1.

RYR1	AALLWAAVTRAGAAGAGAAAGALGLLWGSL>F<GGGLVEGAKKVTVTELLAGMPDPTSDEVHG	4393
RYR2	FSSYWSIFMTLLHFVASVFRGFFRIICSLL>L<GGSLVEGAKKIKVAELLANMPDPTQDEVRG	4344
RYR3	FSFFWMLFVGLFQLLFTILGGIFQILWSTV>F<GGGLVEGAKNIRVTKILGDMPDPTQFGIHD	4245
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F4363L	c.13089C>A	Putative Benign			SIFT: Polyphen: