Paralogue Annotation for RYR2 residue 4758

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4758
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4758

No paralogue variants have been mapped to residue 4758 for RYR2.



RYR2MSVLGHYNNFFFAAHLLDIAMGFKTLRTIL>S<SVTHNGKQLVLTVGLLAVVVYLYTVVAFNF4788
RYR1MSLLGHYNNFFFAAHLLDIAMGVKTLRTIL>S<SVTHNGKQLVMTVGLLAVVVYLYTVVAFNF4859
RYR3MSVLGHYNNFFFAAHLLDIAMGFKTLRTIL>S<SVTHNGKQLVLTVGLLAVVVYLYTVVAFNF4691
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S4758Fc.14273C>T Putative BenignSIFT:
Polyphen: