Paralogue Annotation for RYR2 residue 3807

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3807
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3807

No paralogue variants have been mapped to residue 3807 for RYR2.



RYR2MLDYLKEKKDVGFFQSLAGLMQSCSVLDLN>A<FERQNKAEGLGMVTEEGS------GEKVLQ3831
RYR1MLDYLKDKKEVGFFQSIQALMQTCSVLDLN>A<FERQNKAEGLGMVNEDGTVINRQNGEKVMA3875
RYR3MLDYLKEKKDAGFFQSLSGLMQSCSVLDLN>A<FERQNKAEGLGMVTEEGTLIVRERGEKVLQ3727
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A3807Vc.11420C>T Putative BenignSIFT:
Polyphen: