Paralogue Annotation for RYR1 residue 2404

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2404
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2404

No paralogue variants have been mapped to residue 2404 for RYR1.



RYR1SGLLAAIEEAIRISEDPARDGPGIRRDRRR>E<HFGEEPPEENRVHLGHAIMSFYAALIDLLG2434
RYR2NGLLAAMEEAIKIAEDPSRDGPSPNS-GSS>K<TLDTEEEEDDTIHMGNAIMTFYSALIDLLG2400
RYR3NGLLAAMQGAIKISENPALDLPSQGY-KRE>V<STGDDEEEEEIVHMGNAIMSFYSALIDLLG2297
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E2404Kc.7210G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329
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