Paralogue Annotation for RYR1 residue 4234

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4234
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4234

No paralogue variants have been mapped to residue 4234 for RYR1.



RYR1WEMPQVKESKRQFIFDVVNEGGEAEKMELF>V<SFCEDTIFEMQIAAQISEPEGEPETDEDEG4264
RYR2WEKPQVKESKRQFIFDVVNEGGEKEKMELF>V<NFCEDTIFEMQLAAQISESDLNERSANKEE4220
RYR3WEKPQVKESKRQFIFDVVNEGGEQEKMELF>V<NFCEDTIFEMQLASQISESDSADRPEEEEE4116
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V4234Lc.12700G>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region. Cell Calcium. 2002 32(3):143-51. 12208234
p.V4234Lc.12700G>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families. Anesthesiology. 2013 119(5):1054-65. doi: 10.1097/ALN.0b013e3182a8a998. 24013571