No paralogue variants have been mapped to residue 3104 for RYR1.
RYR1 | SLDARTVMKSGPEIVKAGLRSFFESASEDI>E<KMVENLRLGKVSQARTQVKGVGQNLTYTTV | 3134 |
RYR2 | TLDARTVMKTGLESVKSALRAFLDNAAEDL>E<KTMENLKQGQFTHTRNQPKGVTQIINYTTV | 3099 |
RYR3 | TLDTRTVMKSGSELVKAGLRAFFENAAEDL>E<KTSENLKLGKFTHSRTQIKGVSQNINYTTV | 2995 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3104K | c.9310G>A | Other Myopathy | rs193922832 | 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 | Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204. 19648156 |