Paralogue Annotation for RYR1 residue 3214

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3214
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3214

No paralogue variants have been mapped to residue 3214 for RYR1.

RYR1	EKLRPALGECLARLAAAMPVAFLEPQLNEY>N<ACSVYTTKSPRERAILGLPNSVEEMCPDIP	3244
RYR2	ERQRSALGECLAAFAGAFPVAFLETHLDKH>N<IYSIYNTKSSRERAALSLPTNVEDVCPNIP	3209
RYR3	ERQRPALGECLASLAAAIPVAFLEPTLNRY>N<PLSVFNTKTPRERSILGMPDTVEDMCPDIP	3105
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N3214D	c.9640A>G	Putative Benign		rs377541724	SIFT: deleterious Polyphen: benign