Paralogue Annotation for RYR2 residue 906

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 906
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 906

No paralogue variants have been mapped to residue 906 for RYR2.

RYR2	PHLERIREKLAENIHELWVMNKIELGWQYG>P<VRDDNKRQHPCLVEFSKLPEQERNYNLQMS	936
RYR1	PHLERIREKLAENIHELWALTRIEQGWTYG>P<VRDDNKRLHPCLVDFHSLPEPERNYNLQMS	924
RYR3	PHLEKIRDRLAENIHELWGMNKIELGWTFG>K<IRDDNKRQHPCLVEFSKLPETEKNYNLQMS	923
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P906A	c.2716C>G	Putative Benign			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
p.P906L	c.2717C>T	Putative Benign			SIFT: Polyphen: