Paralogue Annotation for RYR1 residue 2834

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2834
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2834

No paralogue variants have been mapped to residue 2834 for RYR1.

RYR1	RWPIKESLKAMIAWEWTIEKAREGEEEK-->T<EKKKTRKISQSAQTYDPREGYNPQPPDLSA	2864
RYR2	RWPIKESLKTMLAWGWRIERTREGDSMALY>N<RTRRISQTSQV--SVDAAHGYSPRAIDMSN	2830
RYR3	RWPARESLKTMLAVGWTVERTKEGEALVQQ>R<ENEKLRSVSQA--NQ--GNSYSPAPLDLSN	2725
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2834R	c.8501C>G	Putative Benign			SIFT: tolerated Polyphen: benign
p.T2834M	c.8501C>T	Putative Benign			SIFT: Polyphen: