Paralogue Annotation for RYR2 residue 2978

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2978
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2978

No paralogue variants have been mapped to residue 2978 for RYR2.



RYR2RGKGEHFPYEQEIKFFAKVVLPLIDQYFKN>H<RLYFLSAASRPLCSGGHASNKEKEMVTSLF3008
RYR1SGRVEKSPHEQEIKFFAKILLPLINQYFTN>H<CLYFLSTPAKVLGSGGHASNKEKEMITSLF3043
RYR3SGKTEKSPRDQEIKFFAKVLLPLVDQYFTS>H<CLYFLSSPLKPLSSSGYASHKEKEMVAGLF2904
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H2978Lc.8933A>T Putative BenignSIFT:
Polyphen: