Paralogue Annotation for RYR1 residue 2842

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2842
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2842

No paralogue variants have been mapped to residue 2842 for RYR1.

RYR1	KAMIAWEWTIEKAREGEEEK--TEKKKTRK>I<SQSAQTYDPREGYNPQPPDLSAVTLSRELQ	2872
RYR2	KTMLAWGWRIERTREGDSMALYNRTRRISQ>T<SQV--SVDAAHGYSPRAIDMSNVTLSRDLH	2838
RYR3	KTMLAVGWTVERTKEGEALVQQRENEKLRS>V<SQA--NQ--GNSYSPAPLDLSNVVLSRELQ	2733
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2842M	c.8526A>G	Putative Benign			SIFT: Polyphen: