Paralogue Annotation for RYR1 residue 981

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 981
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 981

No paralogue variants have been mapped to residue 981 for RYR1.

RYR1	KTKLPKTYMMSNGYKPAPLDLSHVRLTPAQ>T<TLVDRLAENGHNVWARDRVGQGWSYSAVQD	1011
RYR2	KMKLPKNYQLTSGYKPAPMDLSFIKLTPSQ>E<AMVDKLAENAHNVWARDRIRQGWTYGIQQD	1023
RYR3	KVKLPKNYMMSNGYKPAPLDLSDVKLLPPQ>E<ILVDKLAENAHNVWAKDRIKQGWTYGIQQD	1010
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T981K	c.2942C>A	Putative Benign			SIFT: tolerated Polyphen: benign