Paralogue Annotation for RYR1 residue 3212

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3212
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3212

No paralogue variants have been mapped to residue 3212 for RYR1.

RYR1	YVEKLRPALGECLARLAAAMPVAFLEPQLN>E<YNACSVYTTKSPRERAILGLPNSVEEMCPD	3242
RYR2	YVERQRSALGECLAAFAGAFPVAFLETHLD>K<HNIYSIYNTKSSRERAALSLPTNVEDVCPN	3207
RYR3	YVERQRPALGECLASLAAAIPVAFLEPTLN>R<YNPLSVFNTKTPRERSILGMPDTVEDMCPD	3103
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3212K	c.9634G>A	Putative Benign		rs185371036	SIFT: Polyphen: benign
p.E3212G	c.9635A>G	Putative Benign		rs199738299	SIFT: Polyphen: benign