Paralogue Annotation for RYR2 residue 467

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 467
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 467

No paralogue variants have been mapped to residue 467 for RYR2.

RYR2	KA----STVDLPIESVSLSLQDLIGYFHPP>D<EHLEHEDKQNRLRALKNRQNLFQEEGMINL	497
RYR1	RGSGPPAGTALPIEGVILSLQDLIIYFEPP>S<EDLQHEEKQSKLRSLRNRQSLFQEEGMLSM	485
RYR3	TA----APITLPIEEVLQTLQDLIAYFQPP>E<EEMRHEDKQNKLRSLKNRQNLFKEEGMLAL	484
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D467N	c.1399G>A	Putative Benign			SIFT: Polyphen: