Paralogue Annotation for RYR2 residue 2347

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2347
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2347

No paralogue variants have been mapped to residue 2347 for RYR2.

RYR2	ANVVVRLLIRRPECFGPALRGEGGNGLLAA>M<EEAIKIAEDPSRDGPSPNS-GSSKTLDTEE	2376
RYR1	ANVVVRLLIRKPECFGPALRGEGGSGLLAA>I<EEAIRISEDPARDGPGIRRDRRREHFGEEP	2410
RYR3	ASVVVKLLIRRPECFGPALRGEGGNGLLAA>M<QGAIKISENPALDLPSQGY-KREVSTGDDE	2273
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M2347V	c.7039A>G	Putative Benign			SIFT: Polyphen: