Paralogue Annotation for RYR2 residue 3781

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3781
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3781

No paralogue variants have been mapped to residue 3781 for RYR2.

RYR2	TGPMVAATLKLGIAILNGGNSTVQQKMLDY>L<KEKKDVGFFQSLAGLMQSCSVLDLNAFERQ	3811
RYR1	TGAMVSSTLKLGISILNGGNAEVQQKMLDY>L<KDKKEVGFFQSIQALMQTCSVLDLNAFERQ	3849
RYR3	MSPMVVETLKLGIAILNGGNAGVQQKMLDY>L<KEKKDAGFFQSLSGLMQSCSVLDLNAFERQ	3701
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3781F	c.11341C>T	Putative Benign			SIFT: Polyphen: