Paralogue Annotation for RYR2 residue 512

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 512
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 512

No paralogue variants have been mapped to residue 512 for RYR2.



RYR2LKNRQNLFQEEGMINLVLECIDRLHVYSSA>A<HFADVAGREAGESWKSILNSLYELLAALIR542
RYR1LRNRQSLFQEEGMLSMVLNCIDRLNVYTTA>A<HFAEFAGEEAAESWKEIVNLLYELLASLIR530
RYR3LKNRQNLFKEEGMLALVLNCIDRLNVYNSV>A<HFAGIAREESGMAWKEILNLLYKLLAALIR529
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A512Pc.1534G>C Putative BenignSIFT:
Polyphen: