Paralogue Annotation for RYR2 residue 4410

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4410
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4410

No paralogue variants have been mapped to residue 4410 for RYR2.

RYR2	GLDLKREGGQYKLIPHNPNAGLSDLMSN-P>V<PMPE-V-QEKFQEQ--KA---KEEEKEEKE	4433
RYR1	GAVAVTDGGPFRPEGAGGLGDMGDTTPAEP>P<TPEGSP-ILKRKLGVDGVEEELPPEPEPEP	4495
RYR3	GLHPKKEGS-LKHGPEVGLGDLSEIIGKDE>P<PTLESTVQKKRKA---QA---AEMKAANEA	4336
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4410A	c.13229T>C	Putative Benign			SIFT: Polyphen: