Paralogue Annotation for RYR1 residue 4814

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4814
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4814

No paralogue variants have been mapped to residue 4814 for RYR1.



RYR1IFTDNSFLYLGWYMVMSLLGHYNNFFFAAH>L<LDIAMGVKTLRTILSSVTHNGKQLVMTVGL4844
RYR2VFTDNSFLYLAWYMTMSVLGHYNNFFFAAH>L<LDIAMGFKTLRTILSSVTHNGKQLVLTVGL4773
RYR3VFTDNSFLYLAWYTTMSVLGHYNNFFFAAH>L<LDIAMGFKTLRTILSSVTHNGKQLVLTVGL4676
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L4814Fc.14440C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. J Med Genet. 2004 41(3):e33. 14985404
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146