Paralogue Annotation for RYR2 residue 3690

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3690
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3690

No paralogue variants have been mapped to residue 3690 for RYR2.

RYR2	RVDPLHQLILLFSRTALTEKCKLEEDFLYM>A<YADIMAKSCHDEED-D--DGEEE-VKSFEE	3716
RYR1	KPDPLHQLVLHFSRTALTEKSKLDEDYLYM>A<YADIMAKSCHLEEGGENGEAEEEVEVSFEE	3754
RYR3	QPDPLHQIILYFSRNALTERSKLEDDPLYT>S<YSSMMAKSCQSGED-E--EEDEDKEKTFEE	3606
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3690P	c.11068G>C	Putative Benign			SIFT: Polyphen: