Paralogue Annotation for RYR1 residue 5023

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 5023
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 5023

No paralogue variants have been mapped to residue 5023 for RYR1.

RYR1	LMYLINKDETEHTGQESYVWKMYQERCWDF>F<PAGDCFRKQYEDQLS	5038
RYR2	LMYLINKDETEHTGQESYVWKMYQERCWEF>F<PAGDCFRKQYEDQLN	4967
RYR3	LMYLINKDETEHTGQESYVWKMYQERCWDF>F<PAGDCFRKQYEDQLG	4870
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F5023L	c.15067T>C	Putative Benign			SIFT: Polyphen: