Paralogue Annotation for RYR2 residue 1573

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1573
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1573

No paralogue variants have been mapped to residue 1573 for RYR2.

RYR2	VFAQATSPNVFQFELGRIKNVMPLSAGLFK>S<EHKNPVPQCPPRLHVQFLSHVLWSRMPNQF	1603
RYR1	VFVLPTHQNVIQFELGKQKNIMPLSAAMFQ>S<ERKNPAPQCPPRLEMQMLMPVSWSRMPNHF	1611
RYR3	VFLQPTSTSLFQFELGKLKNAMPLSAAIFR>S<EEKNPVPQCPPRLDVQTIQPVLWSRMPNSF	1507
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1573N	c.4718G>A	Putative Benign			SIFT: Polyphen: