Paralogue Annotation for RYR2 residue 4365

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4365
Reference Amino Acid: D - Aspartate
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4365

No paralogue variants have been mapped to residue 4365 for RYR2.

RYR2	DPTQDEVRGDGEEGERKP-LEAALPSEDLT>D<LKELTEESDLLSD-----IFGLDLKREGGQ	4390
RYR1	DPTSDEVHGEQPAGPGGDADGEGASEGAGD>A<AEGAGDEEEAVHEAGPGGADGAVAVTDGGP	4445
RYR3	DPTQFGIHDDTMEAERAEVMEPGITTELVH>F<IKGEKGDTDIMSD-----LFGLHPKKEGS-	4291
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D4365N	c.13093G>A	Putative Benign		rs372880584	SIFT: tolerated Polyphen: benign
Reports		Unknown		Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510