Paralogue Annotation for RYR2 residue 4720

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4720
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4720

No paralogue variants have been mapped to residue 4720 for RYR2.



RYR2KDSSLSAVLNSIDVKYQMWKLGVVFTDNSF>L<YLAWYMTMSVLGHYNNFFFAAHLLDIAMGF4750
RYR1PPPGLLTWLMSIDVKYQIWKFGVIFTDNSF>L<YLGWYMVMSLLGHYNNFFFAAHLLDIAMGV4821
RYR3EAASLVSWLSSIDMKYHIWKLGVVFTDNSF>L<YLAWYTTMSVLGHYNNFFFAAHLLDIAMGF4653
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Leu4720Proc.14159T>C UnknownSIFT:
Polyphen: