Paralogue Annotation for RYR1 residue 4710

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4710
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4710

No paralogue variants have been mapped to residue 4710 for RYR1.

RYR1	RKLEFDGLYITEQPEDDDVKGQWDRLVLNT>P<SFPSNYWDKFVKRKVLDKHGDIYGRERIAE	4740
RYR2	RKLEFDGLYITEQPSEDDIKGQWDRLVINT>Q<SFPNNYWDKFVKRKVMDKYGEFYGRDRISE	4668
RYR3	RKLEFDGLYITEQPSEDDIKGQWDRLVINT>P<SFPNNYWDKFVKRKVINKYGDLYGAERIAE	4573
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P4710L	c.14129C>T	Putative Benign		rs370212445	SIFT: deleterious Polyphen: