Paralogue Annotation for RYR1 residue 4711

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4711
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4711

No paralogue variants have been mapped to residue 4711 for RYR1.

RYR1	KLEFDGLYITEQPEDDDVKGQWDRLVLNTP>S<FPSNYWDKFVKRKVLDKHGDIYGRERIAEL	4741
RYR2	KLEFDGLYITEQPSEDDIKGQWDRLVINTQ>S<FPNNYWDKFVKRKVMDKYGEFYGRDRISEL	4669
RYR3	KLEFDGLYITEQPSEDDIKGQWDRLVINTP>S<FPNNYWDKFVKRKVINKYGDLYGAERIAEL	4574
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4711C	c.14132C>G	Putative Benign		rs201147958	SIFT: Polyphen: