Paralogue Annotation for RYR2 residue 512

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 512
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 512

No paralogue variants have been mapped to residue 512 for RYR2.

RYR2	LKNRQNLFQEEGMINLVLECIDRLHVYSSA>A<HFADVAGREAGESWKSILNSLYELLAALIR	542
RYR1	LRNRQSLFQEEGMLSMVLNCIDRLNVYTTA>A<HFAEFAGEEAAESWKEIVNLLYELLASLIR	530
RYR3	LKNRQNLFKEEGMLALVLNCIDRLNVYNSV>A<HFAGIAREESGMAWKEILNLLYKLLAALIR	529
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A512P	c.1534G>C	Putative Benign			SIFT: Polyphen: