Paralogue Annotation for RYR1 residue 1424

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1424
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1424

No paralogue variants have been mapped to residue 1424 for RYR1.



RYR1KVAMMTQPPATPTLPRLPHDVVPADNRDDP>E<IILNTTTYYYSVRVFAGQEPSCVWAGWVTP1454
RYR2LLRRTKPDYSTSHSARLTEDVLADDRDDYD>F<LMQT-STYYYSVRIFPGQEPANVWVGWITS1448
RYR3-------------SPCLDSEAFQKRKQMQE>I<LSHTTTQCYYAIRIFAGQDPSCVWVGWVTP1350
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1424Kc.4270G>A Putative BenignSIFT: tolerated
Polyphen: benign