Paralogue Annotation for RYR2 residue 2100

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2100
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2100

No paralogue variants have been mapped to residue 2100 for RYR2.

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

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2100W	c.6298C>T	Putative Benign			SIFT: Polyphen: