Paralogue Annotation for RYR1 residue 2212

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2212
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2212

No paralogue variants have been mapped to residue 2212 for RYR1.



RYR1IGNIMNNKVFYQHPNLMRALGMHETVMEVM>V<NVLGGGESKEIRFPKMVTSCCRFLCYFCRI2242
RYR2LGDIMNNKVFYQHPNLMRALGMHETVMEVM>V<NVLGGGESKEITFPKMVANCCRFLCYFCRI2206
RYR3LGDIMNNKVFYQHPNLMRVLGMHETVMEVM>V<NVLGT-EKSQIAFPKMVASCCRFLCYFCRI2103
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V2212Ac.6635T>C Putative Benignrs193922793SIFT: deleterious
Polyphen: benign
p.V2212Dc.6635T>A Other Myopathyrs193922793SIFT:
Polyphen:
ReportsOther Myopathy Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat. 2006 27(8):830. 16835904