Paralogue Annotation for RYR2 residue 4716

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4716
Reference Amino Acid: D - Aspartate
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4716

No paralogue variants have been mapped to residue 4716 for RYR2.



RYR2KKPKKDSSLSAVLNSIDVKYQMWKLGVVFT>D<NSFLYLAWYMTMSVLGHYNNFFFAAHLLDI4746
RYR1-KPNPPPGLLTWLMSIDVKYQIWKFGVIFT>D<NSFLYLGWYMVMSLLGHYNNFFFAAHLLDI4817
RYR3-KA-EAASLVSWLSSIDMKYHIWKLGVVFT>D<NSFLYLAWYTTMSVLGHYNNFFFAAHLLDI4649
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Asp4716Gluc.14148C>A UnknownSIFT:
Polyphen: