Paralogue Annotation for RYR1 residue 4906

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4906
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4906

No paralogue variants have been mapped to residue 4906 for RYR1.



RYR1KCDDMMTCYLFHMYVGVRAGGGIGDEIEDP>A<GDEYELYRVVFDITFFFFVIVILLAIIQGL4936
RYR2KCDDMLTCYMFHMYVGVRAGGGIGDEIEDP>A<GDEYEIYRIIFDITFFFFVIVILLAIIQGL4865
RYR3KCDDMMTCYLFHMYVGVRAGGGIGDEIEDP>A<GDPYEMYRIVFDITFFFFVIVILLAIIQGL4768
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See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A4906Vc.14717C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet. 2001 10(25):2879-87. 11741831
Other Myopathy The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease. J Gen Physiol. 2003 121(4):277-86. 12642598
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
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
p.A4906Gc.14717C>G Putative BenignSIFT: tolerated
Polyphen: