Paralogue Annotation for RYR1 residue 2001

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2001
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2001

No paralogue variants have been mapped to residue 2001 for RYR1.



RYR1ANQRSRYGLLIKAFSMTAAETARRTREFRS>P<PQEQINMLLQFKDGTDEEDCPLPEEIRQDL2031
RYR2DNQRFRYNEVMQALNMSAALTARKTKEFRS>P<PQEQINMLLNFKD--DKSECPCPEEIRDQL1996
RYR3ANQKFRYNELMQALNMSAALTARKTKEFRS>P<PQEQINMLLNFQL--GE-NCPCPEEIREEL1896
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P2001Lc.6002C>T Putative BenignSIFT:
Polyphen: