Paralogue Annotation for RYR1 residue 2943

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2943
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2943

No paralogue variants have been mapped to residue 2943 for RYR1.

RYR1	AKEKARDREKAQELLKFLQMNGYAVTRGLK>D<MELDSSSIEKRFAFGFLQQLLRWMDISQEF	2973
RYR2	AKEKAKDREKAQDILKFLQINGYAVSRGFK>D<LELDTPSIEKRFAYSFLQQLIRYVDEAHQY	2939
RYR3	AKEKFKDREKAQDLFKFLQVNGIIVSRGMK>D<MELDASSMEKRFAYKFLKKILKYVDSAQEF	2834
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2943N	c.8827G>A	Benign		rs79294840	SIFT: Polyphen: benign