Paralogue Annotation for RYR2 residue 440

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 440
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 440

No paralogue variants have been mapped to residue 440 for RYR2.



RYR2HEESRTARVIRSTVFLFNRFIRGLDALSKK>A<KA----STVDLPIESVSLSLQDLIGYFHPP466
RYR1QEESQAARMIHSTNGLYNQFIKSLDSFSGK>P<RGSGPPAGTALPIEGVILSLQDLIIYFEPP454
RYR3REESQAARIIRNTTALFSQFVSGN-----N>R<TA----APITLPIEEVLQTLQDLIAYFQPP453
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A440Tc.1318G>A Putative BenignSIFT: tolerated
Polyphen: benign
p.A440Vc.1319C>T Putative BenignSIFT:
Polyphen:
p.A440Ec.1319C>A Putative BenignSIFT:
Polyphen: