Paralogue Annotation for RYR2 residue 4353

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4353
Reference Amino Acid: P - Proline
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4353

No paralogue variants have been mapped to residue 4353 for RYR2.

RYR2	KKIKVAELLANMPDPTQDEVRGDGEEGERK>P<-LEAALPSEDLTDLKELTEESDLLSD----	4378
RYR1	KKVTVTELLAGMPDPTSDEVHGEQPAGPGG>D<ADGEGASEGAGDAAEGAGDEEEAVHEAGPG	4432
RYR3	KNIRVTKILGDMPDPTQFGIHDDTMEAERA>E<VMEPGITTELVHFIKGEKGDTDIMSD----	4280
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Pro4353Ser	c.13057C>T	Unknown			SIFT: Polyphen: