Paralogue Annotation for RYR1 residue 2856

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2856
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2856

No paralogue variants have been mapped to residue 2856 for RYR1.

RYR1	EGEEEK--TEKKKTRKISQSAQTYDPREGY>N<PQPPDLSAVTLSRELQAMAEQLAENYHNTW	2886
RYR2	EGDSMALYNRTRRISQTSQV--SVDAAHGY>S<PRAIDMSNVTLSRDLHAMAEMMAENYHNIW	2852
RYR3	EGEALVQQRENEKLRSVSQA--NQ--GNSY>S<PAPLDLSNVVLSRELQGMVEVVAENYHNIW	2747
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N2856T	c.8567A>C	Putative Benign			SIFT: tolerated Polyphen: benign