Paralogue Annotation for RYR2 residue 393

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 393
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 393

No paralogue variants have been mapped to residue 393 for RYR2.

RYR2	IQHVDTGLWLTYQSVDVKSVRMGSIQRKAI>M<HHEGHMDDGISLSRSQHEESRTARVIRSTV	423
RYR1	VQHVASGLWLTYAAPDPKALRLGVLKKKAM>L<HQEGHMDDALSLTRCQQEESQAARMIHSTN	407
RYR3	VQHIASGLWVTYKAQDAKTSRLGPLKRKVI>L<HQEGHMDDGLTLQRCQREESQAARIIRNTT	415
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M393I	c.1179G>T	Putative Benign		rs80313920	SIFT: tolerated Polyphen: possibly damaging
p.Met393Arg	c.1178T>G	Unknown			SIFT: Polyphen: