Paralogue Annotation for RYR2 residue 3693

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3693
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3693

No paralogue variants have been mapped to residue 3693 for RYR2.

RYR2	PLHQLILLFSRTALTEKCKLEEDFLYMAYA>D<IMAKSCHDEED-D--DGEEE-VKSFEEKEM	3719
RYR1	PLHQLVLHFSRTALTEKSKLDEDYLYMAYA>D<IMAKSCHLEEGGENGEAEEEVEVSFEEKQM	3757
RYR3	PLHQIILYFSRNALTERSKLEDDPLYTSYS>S<MMAKSCQSGED-E--EEDEDKEKTFEEKEM	3609
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D3693A	c.11078A>C	Putative Benign			SIFT: tolerated Polyphen: benign