Paralogue Annotation for RYR1 residue 2136

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2136
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2136

No paralogue variants have been mapped to residue 2136 for RYR1.

RYR1	AQEDFVQSPELVRAMFSLLHRQYDGLGELL>R<ALPRAYTISPSSVEDTMSLLECLGQIRSLL	2166
RYR2	AQESVIEDPELVRAMFVLLHRQYDGIGGLV>R<ALPKTYTINGVSVEDTINLLASLGQIRSLL	2130
RYR3	AQEDQIQDSELVRMMFNLLRRQYDSIGELL>Q<ALRKTYTISHTSVSDTINLLAALGQIRSLL	2028
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2136H	c.6407G>A	Putative Benign			SIFT: deleterious Polyphen: benign
p.R2136C	c.6406C>T	Putative Benign			SIFT: Polyphen: benign
p.Arg2136Cys	c.6406C>T	Unknown			SIFT: Polyphen: