Paralogue Annotation for RYR1 residue 2074

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2074
Reference Amino Acid: K - Lysine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2074

No paralogue variants have been mapped to residue 2074 for RYR1.



RYR1LDGEEEEP--EEETTLGSRLMSLLEKVRLV>K<KKEEKPEEERSAEESKPRSLQELVSHMVVR2104
RYR2LDEDG-SLDGNSDLTIRGRLLSLVEKVTYL>K<KKQA--EKPVESDSKKSSTLQQLISETMVR2068
RYR3LEEEE-EE--EEDTSWTGKLCALVYKIKGP>P<KPEK--EQPTEEEERCPTTLKELISQTMIC1966
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K2074Nc.6222G>T Putative BenignSIFT:
Polyphen: