Paralogue Annotation for RYR2 residue 382

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 382
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 382

No paralogue variants have been mapped to residue 382 for RYR2.

RYR2	SEIKYGDSVCYIQHVDTGLWLTYQSVDVKS>V<RMGSIQRKAIMHHEGHMDDGISLSRSQHEE	412
RYR1	PEIKYGESLCFVQHVASGLWLTYAAPDPKA>L<RLGVLKKKAMLHQEGHMDDALSLTRCQQEE	396
RYR3	PEIKYGDSVCFVQHIASGLWVTYKAQDAKT>S<RLGPLKRKVILHQEGHMDDGLTLQRCQREE	404
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V382M	c.1144G>A	Putative Benign		rs370057029	SIFT: tolerated Polyphen: possibly damaging