Paralogue Annotation for RYR2 residue 1578

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1578
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1578

No paralogue variants have been mapped to residue 1578 for RYR2.

RYR2	TSPNVFQFELGRIKNVMPLSAGLFKSEHKN>P<VPQCPPRLHVQFLSHVLWSRMPNQFLKVDV	1608
RYR1	THQNVIQFELGKQKNIMPLSAAMFQSERKN>P<APQCPPRLEMQMLMPVSWSRMPNHFLQVET	1616
RYR3	TSTSLFQFELGKLKNAMPLSAAIFRSEEKN>P<VPQCPPRLDVQTIQPVLWSRMPNSFLKVET	1512
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1578S	c.4732C>T	Putative Benign			SIFT: Polyphen:
p.P1578R	c.4733C>G	Putative Benign			SIFT: Polyphen: