Paralogue Annotation for RYR1 residue 2130

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2130
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2130

No paralogue variants have been mapped to residue 2130 for RYR1.

RYR1	HMVVRWAQEDFVQSPELVRAMFSLLHRQYD>G<LGELLRALPRAYTISPSSVEDTMSLLECLG	2160
RYR2	ETMVRWAQESVIEDPELVRAMFVLLHRQYD>G<IGGLVRALPKTYTINGVSVEDTINLLASLG	2124
RYR3	QTMICWAQEDQIQDSELVRMMFNLLRRQYD>S<IGELLQALRKTYTISHTSVSDTINLLAALG	2022
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2130R	c.6388G>A	Other Myopathy		rs193922789	SIFT: Polyphen:
Reports		Other Myopathy		Suspected malignant hyperthermia during sevoflurane anesthesia. J Chin Med Assoc. 2007 70(11):507-10. 18063506
p.G2130W	c.6388G>T	Putative Benign			SIFT: Polyphen: