Paralogue Annotation for RYR2 residue 4333

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4333
Reference Amino Acid: N - Asparagine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4333

No paralogue variants have been mapped to residue 4333 for RYR2.

RYR2	RGFFRIICSLLLGGSLVEGAKKIKVAELLA>N<MPDPTQDEVRGDGEEGERKP-LEAALPSED	4362
RYR1	AGALGLLWGSLFGGGLVEGAKKVTVTELLA>G<MPDPTSDEVHGEQPAGPGGDADGEGASEGA	4412
RYR3	GGIFQILWSTVFGGGLVEGAKNIRVTKILG>D<MPDPTQFGIHDDTMEAERAEVMEPGITTEL	4264
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N4333D	c.12997A>G	Putative Benign		rs371680410	SIFT: tolerated Polyphen: benign