Paralogue Annotation for RYR1 residue 2776

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2776
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2776

No paralogue variants have been mapped to residue 2776 for RYR1.

RYR1	IIPEKLDSFINKFAEYTHEKWAFDKIQNNW>S<YGENIDEELKTHPMLRPYKTFSEKDKEIYR	2806
RYR2	TIPEKLEYFINKYAEHSHDKWSMDKLANGW>I<YGEIYSDSSKVQPLMKPYKLLSEKEKEIYR	2772
RYR3	SLPEKLEYIVTKYAEHSHDKWACDKSQSGW>K<YGISLDENVKTHPLIRPFKTLTEKEKEIYR	2669
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2776F	c.8327C>T	Conflict		rs147707463	SIFT: Polyphen:
Reports		Other Myopathy		King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2011 21(6):420-7. 21514828
		Other Myopathy		Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946
		Other Myopathy		Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015 122(5):1033-46. doi: 10.1097/ALN.0000000000000610. 25658027