Paralogue Annotation for RYR1 residue 3350

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3350
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3350

No paralogue variants have been mapped to residue 3350 for RYR1.



RYR1LRIIVNNLGIDEASWMKRLAVFAQPIVSRA>R<PELLQSHFIPTIGRLRKRAGKVVSEEEQLR3380
RYR2LKIIYNNLGIDEGAWMKRLAVFSQPIINKV>K<PQLLKTHFLPLMEKLKKKAATVVSEEDHLK3341
RYR3LKIINNNLGIDEASWMKRIAVYAQPIISKA>R<PDLLRSHFIPTLEKLKKKAVKTVQEEEQLK3237
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R3350Lc.10049G>T Putative BenignSIFT: tolerated
Polyphen: benign
p.R3350Qc.10049G>A Putative BenignSIFT:
Polyphen: