Paralogue Annotation for RYR2 residue 4434

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4434
Reference Amino Acid: E - Glutamate
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4434

No paralogue variants have been mapped to residue 4434 for RYR2.

RYR2	PMPE-V-QEKFQEQ--KA---KEEEKEEKE>E<TKSEPEKAEGEDGEKEEKAKEDKGKQKLR-	4463
RYR1	TPEGSP-ILKRKLGVDGVEEELPPEPEPEP>E<PELEPEKADAENGEKEEVPEPTPEPPKKQ-	4525
RYR3	PTLESTVQKKRKA---QA---AEMKAANEA>E<GKVESEKADMEDGEKEDKDKEEEQAEYLWT	4367
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4434A	c.13301A>C	Putative Benign			SIFT: Polyphen: