Paralogue Annotation for RYR1 residue 1467

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1467
Reference Amino Acid: K - Lysine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1467

No paralogue variants have been mapped to residue 1467 for RYR1.



RYR1RVFAGQEPSCVWAGWVTPDYHQHDMSFDLS>K<VRVVTVTMGDEQGNVHSSLKCSNCYMVWGG1497
RYR2RIFPGQEPANVWVGWITSDFHQYDTGFDLD>R<VRTVTVTLGDEKGKVHESIKRSNCYMVCAG1491
RYR3RIFAGQDPSCVWVGWVTPDYHLYSEKFDLN>K<NCTVTVTLGDERGRVHESVKRSNCYMVWGG1393
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K1467Rc.4400A>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. Clin Genet. 2011 79(5):438-47. doi: 10.1111/j.1399-0004.2010.01493. 20681998
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