Paralogue Annotation for RYR1 residue 414

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 414
Reference Amino Acid: I - Isoleucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 414

No paralogue variants have been mapped to residue 414 for RYR1.



RYR1DDALSLTRCQQEESQAARMIHSTNGLYNQF>I<KSLDSFSGKPRGSGPPAGTALPIEGVILSL444
RYR2DDGISLSRSQHEESRTARVIRSTVFLFNRF>I<RGLDALSKKAKA----STVDLPIESVSLSL456
RYR3DDGLTLQRCQREESQAARIIRNTTALFSQF>V<SGN-----NRTA----APITLPIEEVLQTL443
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I414Mc.1242C>G Putative BenignSIFT: deleterious
Polyphen: probably damaging