Paralogue Annotation for RYR1 residue 4054

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4054
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4054

No paralogue variants have been mapped to residue 4054 for RYR1.



RYR1VMLLSLLEGNVVNGMIARQMVDMLVESSSN>V<EMILKFFDMFLKLKDIVGSEAFQDYVTDPR4084
RYR2VMLLSMLEGNVVNGTIGKQMVDMLVESSNN>V<EMILKFFDMFLKLKDLTSSDTFKEYDPDGK4040
RYR3VMLLSLLEGNVVNGTIGKQMVDTLVESSTN>V<EMILKFFDMFLKLKDLTSSDTFKEYDPDGK3936
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V4054Mc.12160G>A Putative BenignSIFT:
Polyphen:
p.V4054Lc.12160G>T Putative BenignSIFT:
Polyphen:
p.V4054Gc.12161T>G Putative BenignSIFT:
Polyphen: