Paralogue Annotation for RYR2 residue 1300

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1300
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1300

No paralogue variants have been mapped to residue 1300 for RYR2.



RYR2VTRIDGTIDSSPCLKVTQKSFGSQNSNTDI>M<FYRLSMPIECAEVFSKTV-AGGLPGAGLFG1329
RYR1VSRVDGTVDTPPCLRLTHRTWGSQNSLVEM>L<FLRLSLPVQFHQHFRCTAGATPLAPPGLQP1316
RYR3VMRIDGTMDSPPCLKVTHKTFGTQNSNADM>I<YCRLSMPVECHSSFSH--------------1302
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M1300Lc.3898A>C Putative BenignSIFT:
Polyphen:
p.M1300Tc.3899T>C Putative BenignSIFT:
Polyphen:
p.M1300Ic.3900G>A Putative BenignSIFT:
Polyphen: