Paralogue Annotation for RYR1 residue 2160

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2160
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2160

No paralogue variants have been mapped to residue 2160 for RYR1.

RYR1	GLGELLRALPRAYTISPSSVEDTMSLLECL>G<QIRSLLIVQMGPQEENLMIQSIGNIMNNKV	2190
RYR2	GIGGLVRALPKTYTINGVSVEDTINLLASL>G<QIRSLLSVRMGKEEEKLMIRGLGDIMNNKV	2154
RYR3	SIGELLQALRKTYTISHTSVSDTINLLAAL>G<QIRSLLSVRMGKEEELLMINGLGDIMNNKV	2052
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2160S	c.6478G>A	Other Myopathy		rs143398211	SIFT: Polyphen:
Reports		Other Myopathy		The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. Clin Genet. 2009 76(6):564-8. 19807743
		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
		Other Myopathy		Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594
p.G2160R	c.6478G>C	Putative Benign			SIFT: Polyphen: