Paralogue Annotation for RYR2 residue 1056

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1056
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1056

No paralogue variants have been mapped to residue 1056 for RYR2.

RYR2	NRRNPRLVPYTLLDDRTKKSNKDSLREAVR>T<LLGYGYNLEAPDQDHAARAEVCSGTGERFR	1086
RYR1	ARRNPRLVPYRLLDEATKRSNRDSLCQAVR>T<LLGYGYNIEPPDQEP-SQVEN-QSRCDRVR	1072
RYR3	NKRNPRLVPYALLDERTKKSNRDSLREAVR>T<FVGYGYNIEPSDQEL-ADSAVEKVSIDKIR	1072
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1056M	c.3167C>T	Putative Benign			SIFT: Polyphen: