Paralogue Annotation for RYR1 residue 3074

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3074
Reference Amino Acid: S - Serine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3074

No paralogue variants have been mapped to residue 3074 for RYR1.



RYR1CKLAALVRHRVSLFGTDAPAVVNCLHILAR>S<LDARTVMKSGPEIVKAGLRSFFESASEDIE3104
RYR2CKLGVLVRHRISLFGNDATSIVNCLHILGQ>T<LDARTVMKTGLESVKSALRAFLDNAAEDLE3069
RYR3CKLAALVRHRISLFGSDSTTMVSCLHILAQ>T<LDTRTVMKSGSELVKAGLRAFFENAAEDLE2965
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S3074Pc.9220T>C Other Disease PhenotypeSIFT:
Polyphen:
ReportsOther Disease Phenotype An exome sequencing strategy to diagnose lethal autosomal recessive disorders. Eur J Hum Genet. 2015 23(3):401-4. doi: 10.1038/ejhg.2014.120. 24961629