Paralogue Annotation for RYR1 residue 4516

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4516
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4516

No paralogue variants have been mapped to residue 4516 for RYR1.

RYR1	ELPPEPEPEPEPELEPEKADAENGEKEEVP>E<PTPEPPKKQ---------APPSPPPKKEEA	4537
RYR2	-KEEEKEEKEETKSEPEKAEGEDGEKEEKA>K<EDKGKQKLR--------QLHTHRYGEPEVP	4476
RYR3	-AEMKAANEAEGKVESEKADMEDGEKEDKD>K<EEEQAEYLWTEVTKKKKRRCGQKVEKPEAF	4387
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4516G	c.13547A>G	Putative Benign		rs149984626	SIFT: Polyphen:
p.E4516K	c.13546G>A	Putative Benign			SIFT: Polyphen: