Paralogue Annotation for RYR2 residue 1582

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1582
Reference Amino Acid: C - Cysteine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1582

No paralogue variants have been mapped to residue 1582 for RYR2.

RYR2	VFQFELGRIKNVMPLSAGLFKSEHKNPVPQ>C<PPRLHVQFLSHVLWSRMPNQFLKVDVSRIS	1612
RYR1	VIQFELGKQKNIMPLSAAMFQSERKNPAPQ>C<PPRLEMQMLMPVSWSRMPNHFLQVETRRAG	1620
RYR3	LFQFELGKLKNAMPLSAAIFRSEEKNPVPQ>C<PPRLDVQTIQPVLWSRMPNSFLKVETERVS	1516
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C1582W	c.4746C>G	Putative Benign			SIFT: Polyphen: