Paralogue Annotation for RYR1 residue 3234

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3234
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3234

No paralogue variants have been mapped to residue 3234 for RYR1.

RYR1	AFLEPQLNEYNACSVYTTKSPRERAILGLP>N<SVEEMCPDIPVLERLMADIGGLAESGARYT	3264
RYR2	AFLETHLDKHNIYSIYNTKSSRERAALSLP>T<NVEDVCPNIPSLEKLMEEIVELAESGIRYT	3229
RYR3	AFLEPTLNRYNPLSVFNTKTPRERSILGMP>D<TVEDMCPDIPQLEGLMKEINDLAESGARYT	3125
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N3234S	c.9701A>G	Putative Benign			SIFT: tolerated Polyphen: benign
p.N3234T	c.9701A>C	Putative Benign			SIFT: Polyphen: