Paralogue Annotation for RYR1 residue 4587

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4587
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4587

No paralogue variants have been mapped to residue 4587 for RYR1.

RYR1	SRNFYTLRFLALFLAFAINFILLFYKVSDS>P<PGEDDMEGSAAGDVSGAGSGGSSGW-GLGA	4616
RYR2	ARNFYNMRMLALFVAFAINFILLFYKVSTS>S<VVEGKE------LPTRSSSENAK-VTSLDS	4549
RYR3	ARNFYNLRFLALFVAFAINFILLFYKVTEE>P<LEEETE------DVANLWN-------SFND	4454
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P4587L	c.13760C>T	Other Myopathy		rs143520367	SIFT: Polyphen:
Reports		Unknown		Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381