Paralogue Annotation for RYR1 residue 2596

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2596
Reference Amino Acid: T - Threonine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2596

No paralogue variants have been mapped to residue 2596 for RYR1.



RYR1APLFAGTEHRAIMVDSMLHTVYRLSRGRSL>T<KAQRDVIEDCLMSLCRYIRPSMLQHLLRRL2626
RYR2APLFAGTEHHASLIDSLLHTVYRLSKGCSL>T<KAQRDSIEVCLLSICGQLRPSMMQHLLRRL2592
RYR3APLFAGTEHCTSLIDSTLQTIYRLSKGRSL>T<KAQRDTIEECLLAICNHLRPSMLQQLLRRL2489
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T2596Ic.7787C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
p.T2596Sc.7787C>G Putative BenignSIFT:
Polyphen: