Paralogue Annotation for RYR1 residue 2125

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2125
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2125

No paralogue variants have been mapped to residue 2125 for RYR1.

RYR1	QELVSHMVVRWAQEDFVQSPELVRAMFSLL>H<RQYDGLGELLRALPRAYTISPSSVEDTMSL	2155
RYR2	QQLISETMVRWAQESVIEDPELVRAMFVLL>H<RQYDGIGGLVRALPKTYTINGVSVEDTINL	2119
RYR3	KELISQTMICWAQEDQIQDSELVRMMFNLL>R<RQYDSIGELLQALRKTYTISHTSVSDTINL	2017
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H2125R	c.6374A>G	Putative Benign			SIFT: Polyphen: