Paralogue Annotation for RYR1 residue 2321

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2321
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2321

No paralogue variants have been mapped to residue 2321 for RYR1.

RYR1	QEQDLEKVVSYLAGCGLQSCPMLVAKGYPD>I<GWNPCGGERYLDFLRFAVFVNGESVEENAN	2351
RYR2	REPDLEKVVRYLAGCGLQSCQMLVSKGYPD>I<GWNPVEGERYLDFLRFAVFCNGESVEENAN	2318
RYR3	EEPDLEKVVTYLAGCGLQSCPMLLAKGYPD>V<GWNPIEGERYLSFLRFAVFVNSESVEENAS	2215
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2321V	c.6961A>G	Other Myopathy		rs34390345	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		Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113
		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
		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.I2321T	c.6962T>C	Putative Benign		rs370500540	SIFT: deleterious Polyphen: probably damaging