Paralogue Annotation for RYR1 residue 2104

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2104
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2104

No paralogue variants have been mapped to residue 2104 for RYR1.

RYR1	KKKEEKPEEERSAEESKPRSLQELVSHMVV>R<WAQEDFVQSPELVRAMFSLLHRQYDGLGEL	2134
RYR2	KKKQA--EKPVESDSKKSSTLQQLISETMV>R<WAQESVIEDPELVRAMFVLLHRQYDGIGGL	2098
RYR3	PKPEK--EQPTEEEERCPTTLKELISQTMI>C<WAQEDQIQDSELVRMMFNLLRRQYDSIGEL	1996
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2104C	c.6310C>T	Putative Benign			SIFT: tolerated Polyphen: benign
p.R2104H	c.6311G>A	Putative Benign			SIFT: Polyphen: