Paralogue Annotation for RYR1 residue 2418

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2418
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2418

No paralogue variants have been mapped to residue 2418 for RYR1.



RYR1EDPARDGPGIRRDRRREHFGEEPPEENRVH>L<GHAIMSFYAALIDLLGRCAPEMHLIQAGKG2448
RYR2EDPSRDGPSPNS-GSSKTLDTEEEEDDTIH>M<GNAIMTFYSALIDLLGRCAPEMHLIHAGKG2414
RYR3ENPALDLPSQGY-KREVSTGDDEEEEEIVH>M<GNAIMSFYSALIDLLGRCAPEMHLIQTGKG2311
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L2418Pc.7253T>C Putative BenignSIFT:
Polyphen: