Paralogue Annotation for RYR1 residue 3412

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3412
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3412

No paralogue variants have been mapped to residue 3412 for RYR1.

RYR1	EAKAEAQEGELLVRDEFSVLCRDLYALYPL>L<IRYVDNNRAQWLTEPNPSAEELFRMVGEIF	3442
RYR2	EARGDMSEAELLILDEFTTLARDLYAFYPL>L<IRFVDYNRAKWLKEPNPEAEELFRMVAEVF	3403
RYR3	DGKGDTQEAELLILDEFAVLCRDLYAFYPM>L<IRYVDNNRSNWLKSPDADSDQLFRMVAEVF	3299
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3412F	c.10234C>T	Putative Benign		rs146754065	SIFT: Polyphen: benign