Paralogue Annotation for RYR2 residue 152

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 152
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 152

No paralogue variants have been mapped to residue 152 for RYR2.

RYR2	RHSYSGMYLCCLSTSRSSTDKLAFDVGLQE>D<TTGEACWWTIHPASKQRSEGEKVRVGDDLI	182
RYR1	RHAHSRMYLSCLTTSRSMTDKLAFDVGLQE>D<ATGEACWWTMHPASKQRSEGEKVRVGDDII	169
RYR3	RHSFSGMYLTCLTTSRSQTDKLAFDVGLRE>H<ATGEACWWTIHPASKQRSEGEKVRIGDDLI	172
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D152N	c.454G>A	Unknown			SIFT: Polyphen:
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