Paralogue Annotation for RYR2 residue 3272

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3272
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3272

No paralogue variants have been mapped to residue 3272 for RYR2.

RYR2	MSRWWEHGPENNPE----RAEMCCTALNSE>H<MNTLLGNILKIIYNNLGIDEGAWMKRLAVF	3302
RYR1	LPRWWERGPEAPPSALPAGAPPPCTAVTSD>H<LNSLLGNILRIIVNNLGIDEASWMKRLAVF	3341
RYR3	LSYWWERGPENLPP----STGPCCTKVTSE>H<LSLILGNILKIINNNLGIDEASWMKRIAVY	3198
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H3272D	c.9814C>G	Putative Benign			SIFT: Polyphen: