Paralogue Annotation for RYR2 residue 4412

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4412
Reference Amino Acid: M - Methionine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4412

No paralogue variants have been mapped to residue 4412 for RYR2.

RYR2	DLKREGGQYKLIPHNPNAGLSDLMSN-PVP>M<PE-V-QEKFQEQ--KA---KEEEKEEKEET	4435
RYR1	VAVTDGGPFRPEGAGGLGDMGDTTPAEPPT>P<EGSP-ILKRKLGVDGVEEELPPEPEPEPEP	4497
RYR3	HPKKEGS-LKHGPEVGLGDLSEIIGKDEPP>T<LESTVQKKRKA---QA---AEMKAANEAEG	4338
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M4412K	c.13235T>A	Putative Benign			SIFT: Polyphen: benign