Paralogue Annotation for RYR1 residue 3220

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3220
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3220

No paralogue variants have been mapped to residue 3220 for RYR1.

RYR1	LGECLARLAAAMPVAFLEPQLNEYNACSVY>T<TKSPRERAILGLPNSVEEMCPDIPVLERLM	3250
RYR2	LGECLAAFAGAFPVAFLETHLDKHNIYSIY>N<TKSSRERAALSLPTNVEDVCPNIPSLEKLM	3215
RYR3	LGECLASLAAAIPVAFLEPTLNRYNPLSVF>N<TKTPRERSILGMPDTVEDMCPDIPQLEGLM	3111
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T3220A	c.9658A>G	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurol Genet. 2015 1(2):e14. doi: 10.1212/NXG.0000000000000015. eColl 27066551