Paralogue Annotation for RYR1 residue 3236

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3236
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3236

No paralogue variants have been mapped to residue 3236 for RYR1.

RYR1	LEPQLNEYNACSVYTTKSPRERAILGLPNS>V<EEMCPDIPVLERLMADIGGLAESGARYTEM	3266
RYR2	LETHLDKHNIYSIYNTKSSRERAALSLPTN>V<EDVCPNIPSLEKLMEEIVELAESGIRYTQM	3231
RYR3	LEPTLNRYNPLSVFNTKTPRERSILGMPDT>V<EDMCPDIPQLEGLMKEINDLAESGARYTEM	3127
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V3236M	c.9706G>A	Putative Benign			SIFT: Polyphen: