Paralogue Annotation for RYR2 residue 4344

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4344
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4344

No paralogue variants have been mapped to residue 4344 for RYR2.

RYR2	LGGSLVEGAKKIKVAELLANMPDPTQDEVR>G<DGEEGERKP-LEAALPSEDLTDLKELTEES	4373
RYR1	FGGGLVEGAKKVTVTELLAGMPDPTSDEVH>G<EQPAGPGGDADGEGASEGAGDAAEGAGDEE	4423
RYR3	FGGGLVEGAKNIRVTKILGDMPDPTQFGIH>D<DTMEAERAEVMEPGITTELVHFIKGEKGDT	4275
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4344E	c.13031G>A	Putative Benign		rs376433496	SIFT: tolerated Polyphen: benign