Paralogue Annotation for RYR2 residue 4336

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4336
Reference Amino Acid: D - Aspartate
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4336

No paralogue variants have been mapped to residue 4336 for RYR2.

RYR2	FRIICSLLLGGSLVEGAKKIKVAELLANMP>D<PTQDEVRGDGEEGERKP-LEAALPSEDLTD	4365
RYR1	LGLLWGSLFGGGLVEGAKKVTVTELLAGMP>D<PTSDEVHGEQPAGPGGDADGEGASEGAGDA	4415
RYR3	FQILWSTVFGGGLVEGAKNIRVTKILGDMP>D<PTQFGIHDDTMEAERAEVMEPGITTELVHF	4267
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D4336E	c.13008C>A	Putative Benign			SIFT: Polyphen: