Paralogue Annotation for RYR2 residue 1572

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1572
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1572

No paralogue variants have been mapped to residue 1572 for RYR2.

RYR2	AVFAQATSPNVFQFELGRIKNVMPLSAGLF>K<SEHKNPVPQCPPRLHVQFLSHVLWSRMPNQ	1602
RYR1	AVFVLPTHQNVIQFELGKQKNIMPLSAAMF>Q<SERKNPAPQCPPRLEMQMLMPVSWSRMPNH	1610
RYR3	AVFLQPTSTSLFQFELGKLKNAMPLSAAIF>R<SEEKNPVPQCPPRLDVQTIQPVLWSRMPNS	1506
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K1572E	c.4714A>G	Putative Benign			SIFT: Polyphen: