Paralogue Annotation for RYR1 residue 978

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 978
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 978

No paralogue variants have been mapped to residue 978 for RYR1.

RYR1	NLKKTKLPKTYMMSNGYKPAPLDLSHVRLT>P<AQTTLVDRLAENGHNVWARDRVGQGWSYSA	1008
RYR2	KVKKMKLPKNYQLTSGYKPAPMDLSFIKLT>P<SQEAMVDKLAENAHNVWARDRIRQGWTYGI	1020
RYR3	DLKKVKLPKNYMMSNGYKPAPLDLSDVKLL>P<PQEILVDKLAENAHNVWAKDRIKQGWTYGI	1007
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P978L	c.2933C>T	Putative Benign		rs200124278	SIFT: Polyphen: probably damaging