Paralogue Annotation for RYR1 residue 4909

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4909
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4909

No paralogue variants have been mapped to residue 4909 for RYR1.

RYR1	DMMTCYLFHMYVGVRAGGGIGDEIEDPAGD>E<YELYRVVFDITFFFFVIVILLAIIQGLIID	4939
RYR2	DMLTCYMFHMYVGVRAGGGIGDEIEDPAGD>E<YEIYRIIFDITFFFFVIVILLAIIQGLIID	4868
RYR3	DMMTCYLFHMYVGVRAGGGIGDEIEDPAGD>P<YEMYRIVFDITFFFFVIVILLAIIQGLIID	4771
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4909K	c.14725G>A	Putative Benign			SIFT: Polyphen: