Paralogue Annotation for RYR1 residue 1000

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1000
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1000

No paralogue variants have been mapped to residue 1000 for RYR1.

RYR1	DLSHVRLTPAQTTLVDRLAENGHNVWARDR>V<GQGWSYSAVQDIPARRNPRLVPYRLLDEAT	1030
RYR2	DLSFIKLTPSQEAMVDKLAENAHNVWARDR>I<RQGWTYGIQQDVKNRRNPRLVPYTLLDDRT	1042
RYR3	DLSDVKLLPPQEILVDKLAENAHNVWAKDR>I<KQGWTYGIQQDLKNKRNPRLVPYALLDERT	1029
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1000M	c.2998G>A	Putative Benign		rs138209392	SIFT: Polyphen: probably damaging