Paralogue Annotation for RYR1 residue 2822

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2822
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2822

No paralogue variants have been mapped to residue 2822 for RYR1.

RYR1	RPYKTFSEKDKEIYRWPIKESLKAMIAWEW>T<IEKAREGEEEK--TEKKKTRKISQSAQTYD	2850
RYR2	KPYKLLSEKEKEIYRWPIKESLKTMLAWGW>R<IERTREGDSMALYNRTRRISQTSQV--SVD	2816
RYR3	RPFKTLTEKEKEIYRWPARESLKTMLAVGW>T<VERTKEGEALVQQRENEKLRSVSQA--NQ-	2712
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2822M	c.8465C>T	Putative Benign			SIFT: Polyphen: