Paralogue Annotation for RYR2 residue 3250

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3250
Reference Amino Acid: W - Tryptophan
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3250

No paralogue variants have been mapped to residue 3250 for RYR2.



RYR2ELAESGIRYTQMPHVMEVILPMLCSYMSRW>W<EHGPENNPE----RAEMCCTALNSEHMNTL3276
RYR1GLAESGARYTEMPHVIEITLPMLCSYLPRW>W<ERGPEAPPSALPAGAPPPCTAVTSDHLNSL3315
RYR3DLAESGARYTEMPHVIEVILPMLCNYLSYW>W<ERGPENLPP----STGPCCTKVTSEHLSLI3172
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W3250Cc.9750G>T Putative BenignSIFT:
Polyphen: