Paralogue Annotation for RYR1 residue 3414

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3414
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3414

No paralogue variants have been mapped to residue 3414 for RYR1.

RYR1	KAEAQEGELLVRDEFSVLCRDLYALYPLLI>R<YVDNNRAQWLTEPNPSAEELFRMVGEIFIY	3444
RYR2	RGDMSEAELLILDEFTTLARDLYAFYPLLI>R<FVDYNRAKWLKEPNPEAEELFRMVAEVFIY	3405
RYR3	KGDTQEAELLILDEFAVLCRDLYAFYPMLI>R<YVDNNRSNWLKSPDADSDQLFRMVAEVFIL	3301
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3414C	c.10240C>T	Putative Benign		rs148892609	SIFT: Polyphen: possibly damaging
p.R3414H	c.10241G>A	Putative Benign		rs142618623	SIFT: Polyphen: benign