Paralogue Annotation for RYR1 residue 4129

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4129
Reference Amino Acid: N - Asparagine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4129

No paralogue variants have been mapped to residue 4129 for RYR1.



RYR1QKQFSGPEIQFLLSCSEADENEMINCEEFA>N<RFQEPARDIGFNVAVLLTNLSEHVPHDPRL4159
RYR2HKHYTQSETEFLLSCAETDENETLDYEEFV>K<RFHEPAKDIGFNVAVLLTNLSEHMPNDTRL4115
RYR3QKQYTQSEIDFLLSCAEADENDMFNYVDFV>D<RFHEPAKDIGFNVAVLLTNLSEHMPNDSRL4011
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N4129Ic.12386A>T Putative BenignSIFT: deleterious
Polyphen: benign