Paralogue Annotation for RYR1 residue 2092

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2092
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2092

No paralogue variants have been mapped to residue 2092 for RYR1.

RYR1	RLMSLLEKVRLVKKKEEKPEEERSAEESKP>R<SLQELVSHMVVRWAQEDFVQSPELVRAMFS	2122
RYR2	RLLSLVEKVTYLKKKQA--EKPVESDSKKS>S<TLQQLISETMVRWAQESVIEDPELVRAMFV	2086
RYR3	KLCALVYKIKGPPKPEK--EQPTEEEERCP>T<TLKELISQTMICWAQEDQIQDSELVRMMFN	1984
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2092W	c.6274C>T	Putative Benign			SIFT: Polyphen: