Paralogue Annotation for RYR1 residue 2041

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2041
Reference Amino Acid: H - Histidine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2041

No paralogue variants have been mapped to residue 2041 for RYR1.



RYR1QFKDGTDEEDCPLPEEIRQDLLDFHQDLLA>H<CGIQLDGEEEEP--EEETTLGSRLMSLLEK2069
RYR2NFKD--DKSECPCPEEIRDQLLDFHEDLMT>H<CGIELDEDG-SLDGNSDLTIRGRLLSLVEK2035
RYR3NFQL--GE-NCPCPEEIREELYDFHEDLLL>H<CGVPLEEEE-EE--EEDTSWTGKLCALVYK1933
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H2041Yc.6121C>T Putative BenignSIFT:
Polyphen: