Paralogue Annotation for RYR2 residue 1057

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1057
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1057

No paralogue variants have been mapped to residue 1057 for RYR2.

RYR2	RRNPRLVPYTLLDDRTKKSNKDSLREAVRT>L<LGYGYNLEAPDQDHAARAEVCSGTGERFRI	1087
RYR1	RRNPRLVPYRLLDEATKRSNRDSLCQAVRT>L<LGYGYNIEPPDQEP-SQVEN-QSRCDRVRI	1073
RYR3	KRNPRLVPYALLDERTKKSNRDSLREAVRT>F<VGYGYNIEPSDQEL-ADSAVEKVSIDKIRF	1073
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1057M	c.3169C>A	Putative Benign			SIFT: Polyphen: