Paralogue Annotation for RYR2 residue 3469

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3469
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3469

No paralogue variants have been mapped to residue 3469 for RYR2.

RYR2	-----VSDQERKKMKRKGDRYSMQTSLIVA>A<LKRLLPIGLNICAPGDQELIALAKNRFSLK	3499
RYR1	DIQSGGSDQERTKKKRRGDRYSVQTSLIVA>T<LKKMLPIGLNMCAPTDQDLITLAKTRYALK	3543
RYR3	QVKSGGQDQERKKTKRRGDLYSIQTSLIVA>A<LKKMLPIGLNMCTPGDQELISLAKSRYSHR	3400
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3469S	c.10405G>T	Putative Benign			SIFT: Polyphen: