Paralogue Annotation for RYR1 residue 2839

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2839
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2839

No paralogue variants have been mapped to residue 2839 for RYR1.

RYR1	ESLKAMIAWEWTIEKAREGEEEK--TEKKK>T<RKISQSAQTYDPREGYNPQPPDLSAVTLSR	2869
RYR2	ESLKTMLAWGWRIERTREGDSMALYNRTRR>I<SQTSQV--SVDAAHGYSPRAIDMSNVTLSR	2835
RYR3	ESLKTMLAVGWTVERTKEGEALVQQRENEK>L<RSVSQA--NQ--GNSYSPAPLDLSNVVLSR	2730
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2839M	c.8516C>T	Putative Benign			SIFT: Polyphen:
p.T2839K	c.8516C>A	Putative Benign			SIFT: Polyphen:
p.T2839R	c.8516C>G	Unknown			SIFT: Polyphen: benign