Paralogue Annotation for RYR2 residue 3999

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3999
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3999

No paralogue variants have been mapped to residue 3999 for RYR2.



RYR2KELMDLQKDMVVMLLSMLEGNVVNGTIGKQ>M<VDMLVESSNNVEMILKFFDMFLKLKDLTSS4029
RYR1KELLDLQKDMVVMLLSLLEGNVVNGMIARQ>M<VDMLVESSSNVEMILKFFDMFLKLKDIVGS4073
RYR3KELLDLLQDMVVMLLSLLEGNVVNGTIGKQ>M<VDTLVESSTNVEMILKFFDMFLKLKDLTSS3925
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Met3999Valc.11995A>G UnknownSIFT:
Polyphen:
p.Met3999Leuc.11995A>T UnknownSIFT:
Polyphen: