Paralogue Annotation for RYR1 residue 975

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 975
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 975

No paralogue variants have been mapped to residue 975 for RYR1.

RYR1	AEDNLKKTKLPKTYMMSNGYKPAPLDLSHV>R<LTPAQTTLVDRLAENGHNVWARDRVGQGWS	1005
RYR2	AEDKVKKMKLPKNYQLTSGYKPAPMDLSFI>K<LTPSQEAMVDKLAENAHNVWARDRIRQGWT	1017
RYR3	AEEDLKKVKLPKNYMMSNGYKPAPLDLSDV>K<LLPPQEILVDKLAENAHNVWAKDRIKQGWT	1004
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R975W	c.2923C>T	Putative Benign		rs371278145	SIFT: deleterious Polyphen: probably damaging
p.R975Q	c.2924G>A	Putative Benign			SIFT: Polyphen: