Paralogue Annotation for RYR2 residue 3701

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3701
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3701

No paralogue variants have been mapped to residue 3701 for RYR2.

RYR2	FSRTALTEKCKLEEDFLYMAYADIMAKSCH>D<EED-D--DGEEE-VKSFEEKEMEKQKLLYQ	3727
RYR1	FSRTALTEKSKLDEDYLYMAYADIMAKSCH>L<EEGGENGEAEEEVEVSFEEKQMEKQRLLYQ	3765
RYR3	FSRNALTERSKLEDDPLYTSYSSMMAKSCQ>S<GED-E--EEDEDKEKTFEEKEMEKQKTLYQ	3617
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D3701E	c.11103T>A	Putative Benign			SIFT: tolerated Polyphen: benign