Paralogue Annotation for RYR1 residue 1295

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1295
Reference Amino Acid: Q - Glutamine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1295

No paralogue variants have been mapped to residue 1295 for RYR1.



RYR1TPPCLRLTHRTWGSQNSLVEMLFLRLSLPV>Q<FHQHFRCTAGATPLAPPGLQPPAEDEARAA1325
RYR2SSPCLKVTQKSFGSQNSNTDIMFYRLSMPI>E<CAEVFSKTV-AGGLPGAGLFGPK-NDLEDY1337
RYR3SPPCLKVTHKTFGTQNSNADMIYCRLSMPV>E<CHSSFSH-----------------------1302
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q1295Kc.3883C>A Putative BenignSIFT:
Polyphen: