Paralogue Annotation for RYR2 residue 1583

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1583
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1583

No paralogue variants have been mapped to residue 1583 for RYR2.

RYR2	FQFELGRIKNVMPLSAGLFKSEHKNPVPQC>P<PRLHVQFLSHVLWSRMPNQFLKVDVSRISE	1613
RYR1	IQFELGKQKNIMPLSAAMFQSERKNPAPQC>P<PRLEMQMLMPVSWSRMPNHFLQVETRRAGE	1621
RYR3	FQFELGKLKNAMPLSAAIFRSEEKNPVPQC>P<PRLDVQTIQPVLWSRMPNSFLKVETERVSE	1517
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1583S	c.4747C>T	Cardiomyopathy		rs200070226	SIFT: deleterious Polyphen: probably damaging
Reports		Cardiomyopathy	ARVD/C	Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening. Heart Rhythm. 2014 11(11):1999-2009. doi: 10.1016/j.hrthm.2014.07.020 25041964