Paralogue Annotation for RYR1 residue 4175

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4175
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4175

No paralogue variants have been mapped to residue 4175 for RYR1.



RYR1LLTNLSEHVPHDPRLHNFLELAESILEYFR>P<YLGRIEIMGASRRIERIYFEISETNRAQWE4205
RYR2LLTNLSEHMPNDTRLQTFLELAESVLNYFQ>P<FLGRIEIMGSAKRIERVYFEISESSRTQWE4161
RYR3LLTNLSEHMPNDSRLKCLLDPAESVLNYFE>P<YLGRIEIMGGAKKIERVYFEISESSRTQWE4057
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P4175Ac.12523C>G Putative BenignSIFT:
Polyphen: