Paralogue Annotation for RYR1 residue 1728

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1728
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1728

No paralogue variants have been mapped to residue 1728 for RYR1.

RYR1	EDAHLPGPLRAGYYDLLISIHLESACRSRR>S<MLSEYIVPLTPETRAITLFPPGRSTENGHP	1758
RYR2	ENKYMPGLLRAGYYDLLIDIHLSSYATARL>M<MNNEYIVPMTEETKSITLFPD------ENK	1744
RYR3	DNKYLPGLLRSGFYDLLISIHLASAKERKL>M<MKNEYIIPITSTTRNIRLFPD------ESK	1648
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1728P	c.5182T>C	Other Myopathy		rs193922780	SIFT: Polyphen:
Reports		Other Myopathy		Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Anesthesiology. 2005 102(3):515-21. 15731587
p.S1728F	c.5183C>T	Other Myopathy		rs193922781	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
		Other Myopathy		Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204. 19648156
		Other Myopathy		Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946
		Unknown		Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381