Paralogue Annotation for RYR1 residue 1008

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1008
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1008

No paralogue variants have been mapped to residue 1008 for RYR1.

RYR1	PAQTTLVDRLAENGHNVWARDRVGQGWSYS>A<VQDIPARRNPRLVPYRLLDEATKRSNRDSL	1038
RYR2	PSQEAMVDKLAENAHNVWARDRIRQGWTYG>I<QQDVKNRRNPRLVPYTLLDDRTKKSNKDSL	1050
RYR3	PPQEILVDKLAENAHNVWAKDRIKQGWTYG>I<QQDLKNKRNPRLVPYALLDERTKKSNRDSL	1037
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1008T	c.3022G>A	Putative Benign			SIFT: Polyphen:
p.A1008S	c.3022G>T	Putative Benign			SIFT: Polyphen: