Paralogue Annotation for RYR2 residue 1974

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1974
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1974

No paralogue variants have been mapped to residue 1974 for RYR2.



RYR2YNEVMQALNMSAALTARKTKEFRSPPQEQI>N<MLLNFKD--DKSECPCPEEIRDQLLDFHED2002
RYR1YGLLIKAFSMTAAETARRTREFRSPPQEQI>N<MLLQFKDGTDEEDCPLPEEIRQDLLDFHQD2037
RYR3YNELMQALNMSAALTARKTKEFRSPPQEQI>N<MLLNFQL--GE-NCPCPEEIREELYDFHED1902
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N1974Hc.5920A>C Putative BenignSIFT: tolerated
Polyphen: benign