Paralogue Annotation for RYR1 residue 957

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 957
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 957

No paralogue variants have been mapped to residue 957 for RYR1.

RYR1	TLKTLLALGCHVGMADEKAEDNLKKTKLPK>T<YMMSNGYKPAPLDLSHVRLTPAQTTLVDRL	987
RYR2	TLKTLLALGCHVGISDEHAEDKVKKMKLPK>N<YQLTSGYKPAPMDLSFIKLTPSQEAMVDKL	999
RYR3	TLKTLLALGCHIAHVNPAAEEDLKKVKLPK>N<YMMSNGYKPAPLDLSDVKLLPPQEILVDKL	986
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T957M	c.2870C>T	Putative Benign		rs201827275	SIFT: Polyphen: probably damaging