Paralogue Annotation for RYR1 residue 3131

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3131
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3131

No paralogue variants have been mapped to residue 3131 for RYR1.

RYR1	EDIEKMVENLRLGKVSQARTQVKGVGQNLT>Y<TTVALLPVLTTLFQHIAQHQFGDDVILDDV	3161
RYR2	EDLEKTMENLKQGQFTHTRNQPKGVTQIIN>Y<TTVALLPMLSSLFEHIGQHQFGEDLILEDV	3126
RYR3	EDLEKTSENLKLGKFTHSRTQIKGVSQNIN>Y<TTVALLPILTSIFEHVTQHQFGMDLLLGDV	3022
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y3131C	c.9392A>G	Putative Benign			SIFT: Polyphen: