Paralogue Annotation for RYR1 residue 2100

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2100
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2100

No paralogue variants have been mapped to residue 2100 for RYR1.

RYR1	VRLVKKKEEKPEEERSAEESKPRSLQELVS>H<MVVRWAQEDFVQSPELVRAMFSLLHRQYDG	2130
RYR2	VTYLKKKQA--EKPVESDSKKSSTLQQLIS>E<TMVRWAQESVIEDPELVRAMFVLLHRQYDG	2094
RYR3	IKGPPKPEK--EQPTEEEERCPTTLKELIS>Q<TMICWAQEDQIQDSELVRMMFNLLRRQYDS	1992
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H2100Y	c.6298C>T	Putative Benign			SIFT: Polyphen: