Paralogue Annotation for RYR1 residue 2192

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2192
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2192

No paralogue variants have been mapped to residue 2192 for RYR1.

RYR1	IRSLLIVQMGPQEENLMIQSIGNIMNNKVF>Y<QHPNLMRALGMHETVMEVMVNVLGGGESKE	2222
RYR2	IRSLLSVRMGKEEEKLMIRGLGDIMNNKVF>Y<QHPNLMRALGMHETVMEVMVNVLGGGESKE	2186
RYR3	IRSLLSVRMGKEEELLMINGLGDIMNNKVF>Y<QHPNLMRVLGMHETVMEVMVNVLGT-EKSQ	2083
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y2192C	c.6575A>G	Putative Benign			SIFT: Polyphen: