Paralogue Annotation for RYR1 residue 2042

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2042
Reference Amino Acid: C - Cysteine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2042

No paralogue variants have been mapped to residue 2042 for RYR1.



RYR1FKDGTDEEDCPLPEEIRQDLLDFHQDLLAH>C<GIQLDGEEEEP--EEETTLGSRLMSLLEKV2070
RYR2FKD--DKSECPCPEEIRDQLLDFHEDLMTH>C<GIELDEDG-SLDGNSDLTIRGRLLSLVEKV2036
RYR3FQL--GE-NCPCPEEIREELYDFHEDLLLH>C<GVPLEEEE-EE--EEDTSWTGKLCALVYKI1934
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C2042Yc.6125G>A Putative BenignSIFT:
Polyphen: