Paralogue Annotation for RYR1 residue 3104

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3104
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3104

No paralogue variants have been mapped to residue 3104 for RYR1.



RYR1SLDARTVMKSGPEIVKAGLRSFFESASEDI>E<KMVENLRLGKVSQARTQVKGVGQNLTYTTV3134
RYR2TLDARTVMKTGLESVKSALRAFLDNAAEDL>E<KTMENLKQGQFTHTRNQPKGVTQIINYTTV3099
RYR3TLDTRTVMKSGSELVKAGLRAFFENAAEDL>E<KTSENLKLGKFTHSRTQIKGVSQNINYTTV2995
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E3104Kc.9310G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
Other Myopathy Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204. 19648156