Paralogue Annotation for RYR1 residue 2085

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2085
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2085

No paralogue variants have been mapped to residue 2085 for RYR1.

RYR1	EETTLGSRLMSLLEKVRLVKKKEEKPEEER>S<AEESKPRSLQELVSHMVVRWAQEDFVQSPE	2115
RYR2	SDLTIRGRLLSLVEKVTYLKKKQA--EKPV>E<SDSKKSSTLQQLISETMVRWAQESVIEDPE	2079
RYR3	EDTSWTGKLCALVYKIKGPPKPEK--EQPT>E<EEERCPTTLKELISQTMICWAQEDQIQDSE	1977
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2085L	c.6254C>T	Putative Benign			SIFT: tolerated Polyphen: benign