Paralogue Annotation for RYR1 residue 3990
Residue details
Gene: RYR1Reference Sequences: Ensembl variant:
ENST00000359596 /
ENSP00000352608Amino Acid Position: 3990
Reference Amino Acid: G - Glycine
Protein Domain: Paralogue Variants mapped to RYR1 residue 3990
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to
check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing.
It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR1.
RYR1 | VFNSLTEYIQGPCTGNQQSLAHSRLWDAVV>G<FLHVFAHMMMKLAQDSSQIELLKELLDLQK | 4020 |
RYR2 | VFNTLTEYIQGPCTGNQQSLAHSRLWDAVV>G<FLHVFAHMQMKLSQDSSQIELLKELMDLQK | 3976 |
RYR3 | IFNSLTEYIQGPCIGNQQSLAHSRLWDAVV>G<FLHVFANMQMKLSQDSSQIELLKELLDLLQ | 3872 |
cons | > < | |
Known Variants in RYR1
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|
p.G3990V | c.11969G>T |
Other Myopathy | | rs193922843 | 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 |
Other Myopathy | |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806.
25525159 |